D. Marsden

发表

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders

K. Romero, V. Sinha, F. Johnson, 2019, Orphanet Journal of Rare Diseases.

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.

D. Marsden, T. Zytkovicz, E. Fitzgerald, 2001, Clinical chemistry.

Newborn screening of lysosomal storage disorders.

H. Levy, D. Marsden, 2010, Clinical chemistry.

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders.

J. Charrow, G. Enns, J. Vockley, 2016, Molecular genetics and metabolism.

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.

E. Faqeih, M. Alfadhel, D. Marsden, 2018, JIMD reports.

Adverse reactions to levodopa: drug toxicity or progression of disease?

Y. Agid, T. Chase, D. Marsden, 1998, The Lancet.

Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects

D. Marsden, C. Larson, A. Strauss, 2005, Journal of Inherited Metabolic Disease.

X-linked creatine transporter defect: An overview

C. Schwartz, T. Degrauw, K. Cecil, 2003, Journal of Inherited Metabolic Disease.

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

J. Vockley, C. Bedrosian, D. Marsden, 2021, Genetics in Medicine.

Emerging role for tandem mass spectrometry in detecting congenital adrenal hyperplasia.

D. Marsden, C. Larson, 2004, Clinical chemistry.

X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

A. Fulton, M. Rivkin, F. Alkuraya, 2006, Journal of Inherited Metabolic Disease.

X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

A. Fulton, M. Rivkin, F. Alkuraya, 2006, Journal of Inherited Metabolic Disease.

Newborn screening for metabolic disorders.

H. Levy, D. Marsden, C. Larson, 2006, The Journal of pediatrics.

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.

P. Tanpaiboon, D. Viskochil, E. Martins, 2022, Molecular genetics and metabolism.

Retrospective chart review of urinary glycosaminoglycan excretion and long-term clinical outcomes of enzyme replacement therapy in patients with mucopolysaccharidoses.

D. Marsden, K. Tylee, E. Kakkis, 2020, Molecular genetics and metabolism.

Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al.

D. Marsden, 2009, Molecular genetics and metabolism.

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

M. Seashore, S. Waisbren, M. Msall, 2004, JAMA.

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.

A. Stark, H. Levy, D. Marsden, 2001, Pediatrics.

The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.

V. Sutton, E. Martins, C. Whitley, 2020, Molecular genetics and metabolism.

Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.

D. Marsden, 2003, The Southeast Asian journal of tropical medicine and public health.

Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation.

R. Calne, R. Williams, D. Marsden, 1987, The Quarterly journal of medicine.

The knowledge gap in expanded newborn screening: Survey results from paediatricians in Massachusetts

S. Waisbren, D. Marsden, M. Gennaccaro, 2005, Journal of Inherited Metabolic Disease.

Pompe disease: clinical perspectives

D. Marsden, J. Cabello, 2016 .

Expanded newborn screening.

D. Marsden, Marsha K. Fearing, Marsha Fearing, 2003, Pediatric annals.

Newborn Screening

D. Marsden, I. Sahai, Inderneel Sahai, 2009, Critical reviews in clinical laboratory sciences.

Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Edwin W. Naylor, Michael E. Msall, M. Seashore, 2003 .

The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

D. Harris, W. Nyhan, G. Berry, 2020, JIMD reports.

Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses.

D. Marsden, E. Kakkis, 2020, Molecular genetics and metabolism.

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

M. Gelb, D. Millington, O. Bodamer, 2016, Clinical chemistry.

Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.

R. Hansen, A. Fulton, D. Marsden, 2005, Archives of ophthalmology.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

S. Waisbren, N. Gregersen, D. Matern, 2008, Molecular genetics and metabolism.

Pompe disease diagnosis and management guideline

David M. Rapoport, Michael S. Watson, Robert D. Steiner, 2006, Genetics in Medicine.

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.

J. Vockley, B. Burton, N. Longo, 2017, Molecular genetics and metabolism.

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.

J. Vockley, D. Marsden, E. McCracken, 2015, Molecular genetics and metabolism.

Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.

J. Burn, D. Marsden, C. Hall, 1986, Journal of medical genetics.

Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening

D. Marsden, T. Zytkovicz, V. Shih, 2008, Pediatrics.

Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.

S. Waisbren, H. Levy, D. Marsden, 2004, Journal of pediatric psychology.

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)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

J. Charrow, Ayesha Ahmad, J. Vockley, 2007, Genetics in Medicine.

Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.

G. Enns, J. Vockley, C. Bedrosian, 2022, Molecular genetics and metabolism.

Pompe disease diagnosis and management guideline ACMG Work Group on Management of Pompe Disease :

B. Byrne, D. Rapoport, M. Watson, 2006 .

Infantile onset Pompe disease: A report of physician narratives from an epidemiologic study

D. Marsden, 2005, Genetics in Medicine.

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)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation

W. Nyhan, B. Barshop, D. Marsden, 2001, European Journal of Pediatrics.

Inborn Errors of Metabolism: Classification and Biochemical Aspects

D. Marsden, 2013 .

The Pompe Registry: tracking Pompe disease symptoms in a broad patient population

B. Byrne, S. Prasad, L. Merlini, 2008, Pediatric Rheumatology Online Journal.

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

K. Ligon, S. Cederbaum, H. Levy, 2003, The Journal of pediatrics.

Levodopa in the treatment of Parkinson's disease: A consensus meeting viewpoint

Y. Agid, E. Tolosa, P. Pollak, 1999, Movement disorders : official journal of the Movement Disorder Society.

Patterns of referral in patients with medically unexplained motor symptoms.

M. Ron, D. Marsden, A. David, 2000, Journal of psychosomatic research.

Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency.

David T. Miller, G. Berry, D. Marsden, 2012, Clinical Biochemistry.

Erratum: Pompe disease diagnosis and management guidelines (Genetics in Medicine (May 2006) 8 (267-288))

B. Byrne, D. Rapoport, M. Watson, 2006 .

Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example

D. Marsden, E. Kruger, Paul McNiven, 2022, Advances in Therapy.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

Michael S. Watson, Piero Rinaldo, B. Yawn, 2006, Pediatrics.

New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry

M. Seashore, S. Waisbren, L. Demmer, 2001, Journal of Inherited Metabolic Disease.

Growth patterns in patients with mucopolysaccharidosis VII

D. Marsden, P. Harmatz, Raymond Y. Wang, 2023, Molecular genetics and metabolism reports.

Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening

D. Marsden, T. Zytkovicz, V. Shih, 2008, Pediatrics.