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Showing articles 0 to 13 of 13

Filter Applied: inborn errors of metabolism (Click to remove)

A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023

Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015

A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015

Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008

Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
Lancet 369:37-42,5, Wilcken,B.,et al, 2007

Phenylketonuria
eMedicine (December), Arnold,G.L., 2007

Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004

Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998

Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
Ann Int Med 120:216-217, Wong,L-J.C.,et al, 1994

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989

GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985



Showing articles 0 to 13 of 13