Harvey Levy

Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trial. Genet Med. 2025 May 14; 101456. View Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trial. Abstract

Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate. Int J Neonatal Screen. 2024 Feb 06; 10(1). View Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate. Abstract

The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies. Mol Genet Metab. 2023 11; 140(3):107693. View The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies. Abstract

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. JIMD Rep. 2023 Sep; 64(5):312-316. View Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. Abstract

In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930-2023). J Inherit Metab Dis. 2023 Jul; 46(4):756-757. View In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930-2023). Abstract

Is More Effective Newborn Screening for Homocystinuria on the Horizon? Clin Chem. 2023 04 28; 69(5):433-434. View Is More Effective Newborn Screening for Homocystinuria on the Horizon? Abstract

The hypergonadotropic hypogonadism conundrum of classic galactosemia. Hum Reprod Update. 2023 03 01; 29(2):246-258. View The hypergonadotropic hypogonadism conundrum of classic galactosemia. Abstract

Charles Scriver: Epitome of the physician scientist. Mol Genet Metab. 2022 Dec; 137(4):388-398. View Charles Scriver: Epitome of the physician scientist. Abstract

Early Development of Newborn Screening for HCU and Current Challenges. Int J Neonatal Screen. 2021 Oct 25; 7(4). View Early Development of Newborn Screening for HCU and Current Challenges. Abstract

Pancreatic involvement in patients with inborn errors of metabolism. Orphanet J Rare Dis. 2021 01 20; 16(1):37. View Pancreatic involvement in patients with inborn errors of metabolism. Abstract

Robert Guthrie and the Trials and Tribulations of Newborn Screening. Int J Neonatal Screen. 2021 Jan 19; 7(1). View Robert Guthrie and the Trials and Tribulations of Newborn Screening. Abstract

Ethical and Psychosocial Implications of Genomic Newborn Screening. Int J Neonatal Screen. 2021 Jan 09; 7(1). View Ethical and Psychosocial Implications of Genomic Newborn Screening. Abstract

The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020 08 06; 107(2):234-250. View The Genetic Landscape and Epidemiology of Phenylketonuria. Abstract

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep. 2020 Mar; 22:100555. View Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Abstract

Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs? J Pediatr. 2020 01; 216:9-11.e1. View Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs? Abstract

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Mol Genet Metab. 2019 12; 128(4):415-421. View Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Abstract

Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. View Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. Abstract

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Mol Genet Metab. 2019 04; 126(4):368-376. View The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Abstract

Revising the Psychiatric Phenotype of Homocystinuria. Genet Med. 2019 08; 21(8):1827-1831. View Revising the Psychiatric Phenotype of Homocystinuria. Abstract

Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. Mol Genet Metab Rep. 2019 Mar; 18:14-18. View Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. Abstract

The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. View The BabySeq project: implementing genomic sequencing in newborns. Abstract

Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria. Mol Genet Metab. 2018 08; 124(4):223-229. View Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria. Abstract

Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119. View Acute Illness Protocol for Urea Cycle Disorders. Abstract

Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria. J Nutr. 2018 02 01; 148(2):194-201. View Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria. Abstract

Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67. View Acute Illness Protocol for Maple Syrup Urine Disease. Abstract

Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods. J Nutr Metab. 2017; 2017:6859820. View Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods. Abstract

Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria. Data Brief. 2017 Aug; 13:377-384. View Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria. Abstract

Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria. Mol Genet Metab. 2017 06; 121(2):96-103. View Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria. Abstract

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301. View Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Abstract

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146. View Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Abstract

Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. J Inherit Metab Dis. 2017 03; 40(2):209-218. View Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. Abstract

Confounding factors in identification of disease-resilient individuals. Nat Biotechnol. 2016 11 08; 34(11):1103-1104. View Confounding factors in identification of disease-resilient individuals. Abstract

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial. Am J Clin Nutr. 2016 Aug; 104(2):334-45. View Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial. Abstract

The remarkable S. Harvey Mudd - A reminiscence. Mol Genet Metab. 2016 07; 118(3):143-144. View The remarkable S. Harvey Mudd - A reminiscence. Abstract

Hyperphenylalaninemia and the genomic revolution. Mol Genet Metab. 2015 Mar; 114(3):380-1. View Hyperphenylalaninemia and the genomic revolution. Abstract

Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria. Mol Genet Metab. 2015 Jan; 114(1):25-8. View Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria. Abstract

The complexity of newborn screening follow-up in phenylketonuria. JIMD Rep. 2014; 17:37-9. View The complexity of newborn screening follow-up in phenylketonuria. Abstract

Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. JPEN J Parenter Enteral Nutr. 2015 Sep; 39(7):875-9. View Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. 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

Newborn screening: the genomic challenge. Mol Genet Genomic Med. 2014 Mar; 2(2):81-4. View Newborn screening: the genomic challenge. Abstract

Genomics in newborn screening. J Pediatr. 2014 Jan; 164(1):14-9. View Genomics in newborn screening. Abstract

Is melatonin synthesis a new biomarker for the pathogenesis and treatment of phenylketonuria? J Pediatr. 2013 May; 162(5):893-4. View Is melatonin synthesis a new biomarker for the pathogenesis and treatment of phenylketonuria? Abstract

Congenital heart disease in maternal PKU. Mol Genet Metab. 2012 Dec; 107(4):648-9. View Congenital heart disease in maternal PKU. Abstract

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. Eur J Hum Genet. 2013 Jan; 21(1):115-7. View A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. Abstract

The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. View The adult galactosemic phenotype. Abstract

Newborn screening conditions: What we know, what we do not know, and how we will know it. Genet Med. 2010 Dec; 12(12 Suppl):S213-4. View Newborn screening conditions: What we know, what we do not know, and how we will know it. Abstract

Phenylketonuria. Lancet. 2010 Oct 23; 376(9750):1417-27. View Phenylketonuria. Abstract

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9. View Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Abstract

Newborn screening of lysosomal storage disorders. Clin Chem. 2010 Jul; 56(7):1071-9. View Newborn screening of lysosomal storage disorders. Abstract

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Mol Genet Metab. 2007 Dec; 92(4):287-91. View Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Abstract

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet. 2007 Aug 11; 370(9586):504-10. View Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Abstract

Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. 2007 Sep-Oct; 92(1-2):63-70. View Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Abstract

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Mol Genet Metab. 2007 Jul; 91(3):218-27. View Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Abstract

Pericardial effusion in primary systemic carnitine deficiency. J Inherit Metab Dis. 2006 Aug; 29(4):589. View Pericardial effusion in primary systemic carnitine deficiency. Abstract

Newborn screening for metabolic disorders. J Pediatr. 2006 May; 148(5):577-584. View Newborn screening for metabolic disorders. Abstract

Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. Mol Genet Metab. 2006 Jun; 88(2):138-45. View Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. Abstract

The use of betaine in the treatment of elevated homocysteine. Mol Genet Metab. 2006 Jul; 88(3):201-7. View The use of betaine in the treatment of elevated homocysteine. Abstract

The clinical aspects of newborn screening: importance of newborn screening follow-up. Ment Retard Dev Disabil Res Rev. 2006; 12(4):246-54. View The clinical aspects of newborn screening: importance of newborn screening follow-up. Abstract

Fetal fatty acid oxidation defects and maternal liver disease in pregnancy. Obstet Gynecol. 2006 Jan; 107(1):115-20. View Fetal fatty acid oxidation defects and maternal liver disease in pregnancy. Abstract

Metabolic disorders in the center of genetic medicine. N Engl J Med. 2005 Nov 03; 353(18):1968-70. View Metabolic disorders in the center of genetic medicine. Abstract

Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. J Child Neurol. 2005 Oct; 20(10):826-8. View Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. Abstract

Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders. J Pediatr Psychol. 2004 Oct; 29(7):565-70. View Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders. Abstract

Expanded screening of newborns for genetic disorders. JAMA. 2004 Feb 18; 291(7):820-1; author reply 821. View Expanded screening of newborns for genetic disorders. Abstract

Historical background for the maternal PKU syndrome. Pediatrics. 2003 Dec; 112(6 Pt 2):1516-8. View Historical background for the maternal PKU syndrome. Abstract

Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study. Pediatrics. 2003 Dec; 112(6 Pt 2):1519-22. View Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study. Abstract

The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics. 2003 Dec; 112(6 Pt 2):1523-9. View The Maternal Phenylketonuria International Study: 1984-2002. Abstract

Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics. 2003 Dec; 112(6 Pt 2):1530-3. View Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Abstract

Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics. 2003 Dec; 112(6 Pt 2):1548-52. View Pregnancy experiences in the woman with mild hyperphenylalaninemia. Abstract

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72. View Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. Abstract

Lessons from the past--looking to the future. Newborn screening. Pediatr Ann. 2003 Aug; 32(8):505-8. View Lessons from the past--looking to the future. Newborn screening. Abstract

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). Mol Genet Metab. 2003 Aug; 79(4):272-80. View Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). Abstract

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol Genet Metab. 2003 May; 79(1):6-16. View Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Abstract

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003 Mar; 142(3):349-52. View Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. Abstract

Expanded newborn screening using tandem mass spectrometry. Adv Pediatr. 2003; 50:81-111. View Expanded newborn screening using tandem mass spectrometry. Abstract

Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628. View Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Abstract