Physician
Medical Genetics
Deborah L. Marsden, MB
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Deborah Marsden practices Medical Genetics. Deborah L. Marsden, MB has written publications. She has 14 publications published with PubMed. The lastest paper is: 'Newborn screening of lysosomal storage disorders.'
Publications
- Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al.
- Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
- Expanded newborn screening.
- Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
- Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.
- Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
- Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study.
- Newborn screening for metabolic disorders.
- Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
- Newborn screening of lysosomal storage disorders.
- Neurological diseases in disorders of organic acids.
- Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
- Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.
Schools
University of New South Wales Faculty of Medicine
St Vincents Hospital
Prince Of Wales Chldns Hospital
University Of California San Diego
Doctors Specialties
- Clinical Biochemical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
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