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Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. HGG Adv. 2025 Apr 11; 6(3):100438. View Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. Abstract

Levacetylleucine (N-acetyl-l-leucine) for Niemann-Pick disease type C. Trends Pharmacol Sci. 2025 Apr; 46(4):386-387. View Levacetylleucine (N-acetyl-l-leucine) for Niemann-Pick disease type C. Abstract

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions. Front Public Health. 2025; 13:1510818. View A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions. Abstract

A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases. Genet Med. 2025 Feb 25; 27(6):101398. View A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases. Abstract

Animal models of Kabuki syndrome and their applicability to novel drug discovery. Expert Opin Drug Discov. 2025 Feb; 20(2):253-265. View Animal models of Kabuki syndrome and their applicability to novel drug discovery. Abstract

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 2024 Nov; 56(11):2287-2294. View Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Abstract

KMT2D regulates activation, localization, and integrin expression by T-cells. Front Immunol. 2024; 15:1341745. View KMT2D regulates activation, localization, and integrin expression by T-cells. Abstract

Characterization of central manifestations in patients with Niemann-Pick disease type C. Genet Med. 2024 03; 26(3):101053. View Characterization of central manifestations in patients with Niemann-Pick disease type C. Abstract

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. Front Public Health. 2023; 11:1248260. View Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. Abstract

Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome. Hum Mol Genet. 2023 06 19; 32(13):2251-2261. View Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome. Abstract

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Mol Genet Metab. 2023 07; 139(3):107626. View Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Abstract

Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome. Am J Med Genet A. 2023 05; 191(5):1325-1338. View Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome. Abstract

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. Front Public Health. 2023; 11:1079601. View Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. Abstract

A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX. Ophthalmic Genet. 2023 Dec; 44(6):591-594. View A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX. Abstract

Persistent Lactic Acidosis in an Infant With Milk Protein Allergy. Clin Pediatr (Phila). 2023 09; 62(8):951-955. View Persistent Lactic Acidosis in an Infant With Milk Protein Allergy. Abstract

From Genotype to Phenotype-A Review of Kabuki Syndrome. Genes (Basel). 2022 Sep 29; 13(10). View From Genotype to Phenotype-A Review of Kabuki Syndrome. Abstract

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Front Genet. 2022; 13:867337. View Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Abstract

Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches. Mov Disord. 2022 03; 37(3):655-656. View Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches. Abstract

A solid start for gene therapy in Tay-Sachs disease. Nat Med. 2022 02; 28(2):236-237. View A solid start for gene therapy in Tay-Sachs disease. Abstract

Targeting neurological abnormalities in lysosomal storage diseases. Trends Pharmacol Sci. 2022 06; 43(6):495-509. View Targeting neurological abnormalities in lysosomal storage diseases. Abstract

Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation. FASEB J. 2021 11; 35(11):e21955. View Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation. Abstract

Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 12; 185(12):3770-3783. View Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Abstract

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates. Cell Rep. 2021 06 08; 35(10):109226. View Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates. Abstract

Caring for Caregivers: Implications for Providing Authentic Family-Centered Care. Pediatrics. 2021 05; 147(5). View Caring for Caregivers: Implications for Providing Authentic Family-Centered Care. Abstract

The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. Int J Pediatr Otorhinolaryngol. 2021 Apr; 143:110649. View The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. Abstract

Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms. Am J Med Genet A. 2021 02; 185(2):528-533. View Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms. Abstract

Congenital microgastria-limb reduction association: A case report and review of the literature. Am J Med Genet A. 2020 12; 182(12):2976-2981. View Congenital microgastria-limb reduction association: A case report and review of the literature. Abstract

Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. Sci Rep. 2020 Jul 07; 10(1):11160. View Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. Abstract

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. Sci Rep. 2020 06 10; 10(1):9382. View Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. Abstract

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genet Med. 2020 10; 22(10):1673-1681. View Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Abstract

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Mol Psychiatry. 2021 06; 26(6):2013-2024. View Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Abstract

The tale of two genes: from next-generation sequencing to phenotype. Cold Spring Harb Mol Case Stud. 2020 04; 6(2). View The tale of two genes: from next-generation sequencing to phenotype. Abstract

An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. J Inherit Metab Dis. 2020 07; 43(4):880-890. View An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. Abstract

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Eur J Hum Genet. 2020 06; 28(6):770-782. View De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Abstract

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302. View Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Abstract

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. Am J Med Genet A. 2020 04; 182(4):640-651. View The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. Abstract

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137. View ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Abstract

Holoprosencephaly in Kabuki syndrome. Am J Med Genet A. 2020 03; 182(3):441-445. View Holoprosencephaly in Kabuki syndrome. Abstract

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Mol Genet Genomic Med. 2020 02; 8(2):e1072. View Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Abstract

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. View Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Abstract

Prenatal and perinatal history in Kabuki Syndrome. Am J Med Genet A. 2020 01; 182(1):85-92. View Prenatal and perinatal history in Kabuki Syndrome. Abstract

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. Mol Genet Metab Rep. 2019 Dec; 21:100530. View Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. Abstract

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. Abstract

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. Hum Mol Genet. 2019 09 01; 28(17):2937-2951. View De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. Abstract

A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. Am J Med Genet A. 2019 09; 179(9):1866-1871. View A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. Abstract

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Abstract

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Abstract

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330. View ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Abstract

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". Genet Med. 2019 01; 21(1):262-265. View Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". Abstract

Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019 02; 56(2):89-95. View Kabuki syndrome: international consensus diagnostic criteria. Abstract

Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes. Exp Neurol. 2018 10; 308:72-79. View Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes. Abstract

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242. View Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Abstract

Expanding the clinical spectrum of biallelic ZNF335 variants. Clin Genet. 2018 08; 94(2):246-251. View Expanding the clinical spectrum of biallelic ZNF335 variants. Abstract

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One. 2017; 12(12):e0189324. View A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. Abstract

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Abstract

Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. Abstract

Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation. Metab Brain Dis. 2017 Dec; 32(6):1951-1961. View Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation. Abstract

Newborn Screening for Pompe Disease. Pediatrics. 2017 Jul; 140(Suppl 1):S4-S13. View Newborn Screening for Pompe Disease. Abstract

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). Mol Genet Metab Rep. 2017 Jun; 11:62-64. View Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). Abstract

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis. 2017 04 24; 12(1):77. View Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Abstract

Dark Colored Urine in a 2-Year-Old Child. Clin Chem. 2017 03; 63(3):786-788. View Dark Colored Urine in a 2-Year-Old Child. Abstract

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. Genet Med. 2017 02; 19(2):256-263. View Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. Abstract

Newborn Screening for Lysosomal Storage Disorders. J Pediatr Genet. 2017 Mar; 6(1):51-60. View Newborn Screening for Lysosomal Storage Disorders. Abstract

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Clin Chem. 2016 11; 62(11):1430-1438. View Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? Abstract

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 05 27; 7:11601. View Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Abstract

Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells. PLoS One. 2015; 10(9):e0133813. View Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells. Abstract

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. Clin Genet. 2016 Mar; 89(3):359-66. View Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. Abstract

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015 Jun; 52(6):413-21. View Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Abstract

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. Curr Protoc Hum Genet. 2015 Jan 20; 84:17.17.1-17.17.8. View Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. Abstract

Liver, pancreas and kidney transplantation for the treatment of Wolcott-Rallison syndrome. Am J Transplant. 2015 Feb; 15(2):565-7. View Liver, pancreas and kidney transplantation for the treatment of Wolcott-Rallison syndrome. Abstract

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab. 2015 Mar; 29(2):145-57. View Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Abstract

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. Clin Chim Acta. 2015 Jan 01; 438:195-204. View Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. Abstract

The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. 2014 Sep-Oct; 113(1-2):34-41. View The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Abstract

Diagnosis of lysosomal storage disorders: Gaucher disease. Curr Protoc Hum Genet. 2014 Jul 14; 82:17.15.1-17.15.6. View Diagnosis of lysosomal storage disorders: Gaucher disease. Abstract

Screening for late-onset Pompe disease in Finland. Neuromuscul Disord. 2014 Nov; 24(11):982-5. View Screening for late-onset Pompe disease in Finland. Abstract

Bridging the gaps between the histopathological and demographic risk factors of preterm birth in a unique Miami inner-city population. Fetal Pediatr Pathol. 2014 Aug; 33(4):226-33. View Bridging the gaps between the histopathological and demographic risk factors of preterm birth in a unique Miami inner-city population. Abstract

Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes. Orphanet J Rare Dis. 2014 Mar 31; 9:45. View Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes. Abstract

Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122. View Phenylketonuria Scientific Review Conference: state of the science and future research needs. Abstract

Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model. Eur J Hum Genet. 2014 Oct; 22(10):1172-9. View Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model. Abstract

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014 Mar; 164A(3):627-33. View Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Abstract

Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014 May; 37(3):461-73. View Update on transcobalamin deficiency: clinical presentation, treatment and outcome. Abstract

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II. Curr Protoc Hum Genet. 2013 Oct 18; 79:17.14.1-17.14.9. View Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II. Abstract

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Mol Cytogenet. 2013 Sep 20; 6(1):38. View Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Abstract

Analysis of lyso-globotriaosylsphingosine in dried blood spots. Ann Lab Med. 2013 Jul; 33(4):274-8. View Analysis of lyso-globotriaosylsphingosine in dried blood spots. Abstract

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis. 2013 Jan 10; 8:6. View Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Abstract

Diagnosing lysosomal storage disorders: Fabry disease. Curr Protoc Hum Genet. 2013; Chapter 17:Unit17.13. View Diagnosing lysosomal storage disorders: Fabry disease. Abstract

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. J Inherit Metab Dis. 2013 Sep; 36(5):881-5. View Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. Abstract

Diagnosing lysosomal storage disorders: Pompe disease. Curr Protoc Hum Genet. 2012 Oct; Chapter 17:Unit17.11. View Diagnosing lysosomal storage disorders: Pompe disease. Abstract

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics. 2012 Oct; 130(4):e1034-9. View Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Abstract

Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry. Ann Lab Med. 2012 Sep; 32(5):319-23. View Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry. Abstract

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis. 2012 Apr 23; 7:22. View Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Abstract

Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders. Clin Chim Acta. 2012 Aug 16; 413(15-16):1270-3. View Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders. Abstract

Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family. Eur J Endocrinol. 2012 Jul; 167(1):131-4. View Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family. Abstract

Newborn screening for lysosomal storage disorders in hungary. JIMD Rep. 2012; 6:117-25. View Newborn screening for lysosomal storage disorders in hungary. Abstract

Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012 Jul; 14(7):648-55. View Enhanced interpretation of newborn screening results without analyte cutoff values. Abstract

Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012 May; 106(1):73-82. View Expert recommendations for the laboratory diagnosis of MPS VI. Abstract

Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). J Inherit Metab Dis. 2012 Sep; 35(5):817-21. View Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). Abstract

Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012 Jan; 35(1):41-9. View Propionic acidemia: neonatal versus selective metabolic screening. Abstract

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011 Nov 07; 6:72. View Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Abstract

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr. 2012 Jan; 171(1):181-8. View The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Abstract

Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. 2012 Jan; 35(1):51-63. View Mutation analysis in 54 propionic acidemia patients. Abstract

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. J Pediatr. 2011 Dec; 159(6):1041-3.e2. View B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. Abstract

Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial. J Dev Behav Pediatr. 2011 Jul-Aug; 32(6):454-60. View Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial. Abstract

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol Genet Metab. 2011 Aug; 103(4):358-61. View Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Abstract

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May; 13(5):457-84. View Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Abstract

Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility. Pak J Pharm Sci. 2011 Jan; 24(1):75-9. View Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility. Abstract

Early access experience with VPRIV(®): recommendations for 'core data' collection. Blood Cells Mol Dis. 2011 Aug 15; 47(2):140-2. View Early access experience with VPRIV(®): recommendations for 'core data' collection. Abstract

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med. 2010 Dec; 12(12):816-22. View Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Abstract

Low levels of asymmetric dimethylarginine in children with diabetes mellitus type I compared with healthy children. J Pediatr. 2011 Apr; 158(4):602-606.e1. View Low levels of asymmetric dimethylarginine in children with diabetes mellitus type I compared with healthy children. Abstract

Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry. Clin Chim Acta. 2011 Jan 30; 412(3-4):343-6. View Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry. Abstract

Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr. 2010 Dec; 160(23-24):600-4. View Laboratory and genetic evaluation of Gaucher disease. Abstract

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child. 2010 Apr; 95(4):296-301. View Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Abstract

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin Chim Acta. 2010 Oct 09; 411(19-20):1428-31. View Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Abstract

Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing. Clin Chim Acta. 2010 Jun 03; 411(11-12):894-5. View Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing. Abstract

Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease. Eur J Radiol. 2011 Aug; 79(2):295-8. View Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease. Abstract

Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease. Blood Cells Mol Dis. 2010 Mar-Apr; 44(2):86-7. View Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease. Abstract

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope. 2010 Feb; 120(2):359-64. View A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Abstract

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Mol Genet Metab. 2010 May; 100(1):42-5. View The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Abstract

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. Clin Chim Acta. 2010 Mar; 411(5-6):345-50. View Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. Abstract

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009 Oct; 32(5):630. View Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. Abstract

Danon disease: case report and detection of new mutation. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S115-22. View Danon disease: case report and detection of new mutation. Abstract

Transcobalamin II deficiency at birth. Mol Genet Metab. 2009 Nov; 98(3):285-8. View Transcobalamin II deficiency at birth. Abstract

Introduction of a novel prototype bioartificial liver support system utilizing small human hepatocytes in rotary culture. Tissue Eng Part A. 2009 May; 15(5):1063-73. View Introduction of a novel prototype bioartificial liver support system utilizing small human hepatocytes in rotary culture. Abstract

Low creatinine: the diagnostic clue for a treatable neurologic disorder. Neurology. 2009 Mar 03; 72(9):854-5. View Low creatinine: the diagnostic clue for a treatable neurologic disorder. Abstract

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. Mol Genet Metab. 2009 Apr; 96(4):273-5. View Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. Abstract

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin Chem. 2009 Jan; 55(1):158-64. View Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Abstract

Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clin Chem. 2008 Oct; 54(10):1624-9. View Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Abstract

Heparin cofactor II-thrombin complex: a biomarker of MPS disease. Mol Genet Metab. 2008 Aug; 94(4):456-461. View Heparin cofactor II-thrombin complex: a biomarker of MPS disease. Abstract

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis. 2008 Jun; 31(3):361-7. View Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. Abstract

Congenital disorders of glycosylation--a challenging group of IEMs. J Inherit Metab Dis. 2008 Apr; 31(2):267-9. View Congenital disorders of glycosylation--a challenging group of IEMs. Abstract

Comparison of tetrahydrofuran and ethyl acetate as extraction solvents for urinary organic acid analysis. J Inherit Metab Dis. 2008 Feb; 31(1):73-80. View Comparison of tetrahydrofuran and ethyl acetate as extraction solvents for urinary organic acid analysis. Abstract

Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. Mol Genet Metab. 2008 May; 94(1):46-51. View Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. Abstract

Newborn screening in Fabry disease: what can be achieved with early diagnosis? Clin Ther. 2008; 30 Suppl B:S41. View Newborn screening in Fabry disease: what can be achieved with early diagnosis? Abstract

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008 Mar; 93(3):275-81. View Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Abstract

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008 Mar; 167(3):267-77. View Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Abstract

Metabolic changes in the normal ageing brain: consistent findings from short and long echo time proton spectroscopy. Eur J Radiol. 2008 Nov; 68(2):320-7. View Metabolic changes in the normal ageing brain: consistent findings from short and long echo time proton spectroscopy. Abstract

Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome. Am J Med Genet A. 2007 Sep 01; 143A(17):2065-9. View Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome. Abstract

Expanded newborn screening in Europe 2007. J Inherit Metab Dis. 2007 Aug; 30(4):439-44. View Expanded newborn screening in Europe 2007. Abstract

Screening for leukemia- and clone-specific markers at birth in children with T-cell precursor ALL suggests a predominantly postnatal origin. Blood. 2007 Oct 15; 110(8):3036-8. View Screening for leukemia- and clone-specific markers at birth in children with T-cell precursor ALL suggests a predominantly postnatal origin. Abstract

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. Mol Genet Metab. 2007 Aug; 91(4):379-83. View Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. Abstract

Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency. J Child Neurol. 2007 Jun; 22(6):773-4. View Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency. Abstract

Methylation status in females with rett syndrome. J Child Neurol. 2007 May; 22(5):635-8. View Methylation status in females with rett syndrome. Abstract

Long-term stability of amino acids and acylcarnitines in dried blood spots. Clin Chem. 2007 Apr; 53(4):717-22. View Long-term stability of amino acids and acylcarnitines in dried blood spots. Abstract

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria. Eur J Pediatr. 2007 Jan; 166(1):1-4. View Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria. Abstract

Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth. Genet Med. 2006 Aug; 8(8):518-24. View Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth. Abstract

Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry. Clin Chim Acta. 2006 Nov; 373(1-2):27-31. View Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry. Abstract

Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia. Arch Dis Child. 2006 Jun; 91(6):483-6. View Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia. Abstract

Prenatal and postnatal treatment in cobalamin C defect. J Pediatr. 2005 Oct; 147(4):469-72. View Prenatal and postnatal treatment in cobalamin C defect. Abstract

Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):328-34. View Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. Abstract

Central nervous system malformations in oral-facial-digital syndrome, type 1. Am J Med Genet A. 2005 Jul 15; 136(2):218. View Central nervous system malformations in oral-facial-digital syndrome, type 1. Abstract

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology. 2005 Jun 28; 64(12):2142-4. View Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Abstract

Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005 Apr; 32(4):270-2. View Mucopolysaccharidosis type II in females: case report and review of literature. Abstract

Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol. 2005 Apr; 57(4):557-60. View Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Abstract

Rapid analysis of total plasma homocysteine by tandem mass spectrometry. Clin Chim Acta. 2005 Jan; 351(1-2):139-41. View Rapid analysis of total plasma homocysteine by tandem mass spectrometry. Abstract

Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting. Genet Test. 2005; 9(1):6-13. View Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting. Abstract

Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome? Acta Paediatr. 2005 Jan; 94(1):48-52. View Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome? Abstract

Fabry disease defined. Eur J Clin Invest. 2004 Jun; 34(6):449; author reply 450. View Fabry disease defined. Abstract

Recurrent acroparaesthesia during febrile infections. Lancet. 2004 May 22; 363(9422):1698. View Recurrent acroparaesthesia during febrile infections. Abstract

Characterization of seven novel mutations in seven patients with GAMT deficiency. Hum Mutat. 2004 May; 23(5):524. View Characterization of seven novel mutations in seven patients with GAMT deficiency. Abstract

Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Horm Res. 2004; 61(5):222-7. View Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. Abstract

Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004; 27(6):877-83. View Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. Abstract

Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr. 2003 May; 92(5):625-8. View Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Abstract

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis. 2003; 26(2-3):299-308. View Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. Abstract

Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis. 2003; 26(8):761-73. View Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. Abstract

Utilization of cornstarch in glycogen storage disease type Ia. Eur J Gastroenterol Hepatol. 2002 Nov; 14(11):1251-6. View Utilization of cornstarch in glycogen storage disease type Ia. Abstract

Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem. 2002 Nov; 48(11):1913-8. View Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Abstract

L-alanine supplementation in late infantile glycogen storage disease type II. Pediatr Neurol. 2002 Aug; 27(2):145-6. View L-alanine supplementation in late infantile glycogen storage disease type II. Abstract

Familial complex chromosomal rearrangement resulting in a recombinant chromosome. Am J Med Genet. 2002 May 15; 109(4):311-7. View Familial complex chromosomal rearrangement resulting in a recombinant chromosome. Abstract

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). Am J Med Genet. 2002 May 15; 109(4):328-31. View Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). Abstract

Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Clin Chem. 2002 May; 48(5):767-9. View Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Abstract

Practical management of combined methylmalonicaciduria and homocystinuria. J Child Neurol. 2002 May; 17(5):353-6. View Practical management of combined methylmalonicaciduria and homocystinuria. Abstract

Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis. J Paediatr Child Health. 2001 Oct; 37(5):520-2. View Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis. Abstract

Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta. 2001 Jun; 308(1-2):173-8. View Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Abstract

Uses of stable isotopes in clinical diagnosis and research in the paediatric population. Arch Dis Child. 2001 May; 84(5):444-8. View Uses of stable isotopes in clinical diagnosis and research in the paediatric population. Abstract

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology. 2001 Apr 24; 56(8):1113. View Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Abstract

Atypical presentation of amniotic band sequence. Am J Med Genet. 2001 Apr 22; 100(2):100-2. View Atypical presentation of amniotic band sequence. Abstract

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol. 2001 Feb; 16(2):136-8. View Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. Abstract

Subdural hematomas and glutaric aciduria type I. Pediatrics. 2001 Feb; 107(2):451. View Subdural hematomas and glutaric aciduria type I. Abstract

The effects of l-alanine supplementation in late-onset glycogen storage disease type II. Neurology. 2000 Sep 12; 55(5):710-2. View The effects of l-alanine supplementation in late-onset glycogen storage disease type II. Abstract

Measurement of carbon dioxide production in very low birth weight babies. Arch Dis Child Fetal Neonatal Ed. 2000 Jul; 83(1):F50-5. View Measurement of carbon dioxide production in very low birth weight babies. Abstract

Resting energy expenditure in disorders of propionate metabolism. J Pediatr. 2000 May; 136(5):659-63. View Resting energy expenditure in disorders of propionate metabolism. Abstract

Deletion (9) (p13.1 p21.1). Am J Med Genet. 2000 Mar 13; 91(2):113-5. View Deletion (9) (p13.1 p21.1). Abstract

Psychiatric symptoms of inherited metabolic disease. J Inherit Metab Dis. 2000 Feb; 23(1):2-6. View Psychiatric symptoms of inherited metabolic disease. Abstract

Protein, glucose and energy metabolism in Gaucher disease type I. J Inherit Metab Dis. 2000 Feb; 23(1):86-7. View Protein, glucose and energy metabolism in Gaucher disease type I. Abstract

Sublingual therapy for cobalamin deficiency. Lancet. 1999 Oct 30; 354(9189):1562. View Sublingual therapy for cobalamin deficiency. Abstract

Importance of measuring plasma cholesterol precursors. Am J Med Genet. 1999 Jan 15; 82(2):199. View Importance of measuring plasma cholesterol precursors. Abstract

Increased resting energy expenditure in glycogen storage disease type Ia. J Inherit Metab Dis. 1998 Feb; 21(1):80-1. View Increased resting energy expenditure in glycogen storage disease type Ia. Abstract

Effects of fish oil supplementation on apolipoprotein B100 production and lipoprotein metabolism in normolipidaemic males. Eur J Clin Nutr. 1998 Feb; 52(2):104-9. View Effects of fish oil supplementation on apolipoprotein B100 production and lipoprotein metabolism in normolipidaemic males. Abstract

Leucine and glucose kinetics in glycogen storage disease type IIIa. J Inherit Metab Dis. 1997 Nov; 20(6):847. View Leucine and glucose kinetics in glycogen storage disease type IIIa. Abstract

Assessment of energy expenditure in metabolic disorders. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S24-8. View Assessment of energy expenditure in metabolic disorders. Abstract

Measurement of glucose turnover--implications for the study of inborn errors of metabolism. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S35-8. View Measurement of glucose turnover--implications for the study of inborn errors of metabolism. Abstract

Dietary treatment in late-onset acid maltase deficiency. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S39-42. View Dietary treatment in late-onset acid maltase deficiency. Abstract

Stable isotope studies in inborn errors of metabolism--implications and conclusions. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S88-9. View Stable isotope studies in inborn errors of metabolism--implications and conclusions. Abstract

Protein turnover in critically ill children. Eur J Pediatr. 1997 Aug; 156 Suppl 1:S59-61. View Protein turnover in critically ill children. Abstract

H2-breath tests--importance of adequate storage of breath samples. J Pediatr Gastroenterol Nutr. 1997 Apr; 24(4):450-1. View H2-breath tests--importance of adequate storage of breath samples. Abstract

Medicine in Germany. Lancet. 1997 Feb 15; 349(9050):508. View Medicine in Germany. Abstract

Intermittent maple syrup disease. Lancet. 1996 Jan 20; 347(8995):191-2. View Intermittent maple syrup disease. Abstract