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Deborah Marsden, MD
Attending Physician, Division of Genetics and Genomics
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Deborah Marsden, MD
Attending Physician, Division of Genetics and Genomics
Medical Services
Languages
English
Certifications
American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)
Publications
Clinical manifestations, healthcare resource utilization, and costs among patients with long-chain fatty acid oxidation disorders: a retrospective claims database analysis. View Abstract
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program. View Abstract
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know? View Abstract
Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example. View Abstract
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program. View Abstract
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII. View Abstract
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders. View Abstract
Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]. View Abstract
Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses. View Abstract
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. View Abstract
Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses. View Abstract
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. View Abstract
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). View Abstract
Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). View Abstract
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency. View Abstract
Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? View Abstract
Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review. View Abstract
Newborn screening of lysosomal storage disorders. View Abstract
Newborn screening. View Abstract
Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al. View Abstract
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. View Abstract
Manual of Pediatric Therapeutics View Abstract
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
View Abstract
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. View Abstract
Screening newborns for inherited metabolic disease View Abstract
Metabolic Bone Disease in PKU View Abstract
Pompe disease diagnosis and management guideline. View Abstract
Newborn screening for metabolic disorders. View Abstract
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. View Abstract
Classification of PKU View Abstract
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. View Abstract
Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study. View Abstract
Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. View Abstract
The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts. View Abstract
Nutritional Management of Phenylketonuria View Abstract
Inborn Errors of Metabolism: Classification and Biochemical Aspects View Abstract
Disorders of Creatine Metabolism View Abstract
Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders. View Abstract
New Advances in Genetics that Impact Clinical Practices for Pediatricians View Abstract
Emerging role for tandem mass spectrometry in detecting congenital adrenal hyperplasia. View Abstract
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. View Abstract
Expanded newborn screening. View Abstract
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. View Abstract
X-linked creatine transporter defect: an overview. View Abstract
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience. View Abstract
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. View Abstract
Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation. View Abstract
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. View Abstract
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. View Abstract
Clinical picture: Multicolour karyotyping. View Abstract
Notification experience with newborn disorders detected by tandem mass spectrometry in the early experience of the New England program View Abstract
New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry. View Abstract
Metabolic Testing in Newborns View Abstract
Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation. View Abstract
Disorders of Organic Acids View Abstract
Acute basal ganglia infarction in propionic acidemia. View Abstract
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. View Abstract
Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. View Abstract
Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency. View Abstract
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. View Abstract
Neurological diseases in disorders of organic acids. View Abstract
Neurobehavioral profile in two sisters with Schwachmann- Diamond syndrome View Abstract
Inborn errors of metabolism View Abstract
Metabolic correlates of learning disability. View Abstract
Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. View Abstract
Transcutaneous estimation of arterial carbon dioxide in intensive care. Which electrode temperature? View Abstract
Transcutaneous oxygen and carbon dioxide monitoring in intensive care. View Abstract
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