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Showing articles 0 to 26 of 26

Filter Applied: enzyme,defect (Click to remove)

Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

Brain Imaging in Late-Onset CM2 Gangliosidosis
Neurol 43:2055-2058, Streifler,J.Y.,et al, 1993

Late Onset Globoid Cell Leukodystrophy
JNNP 54:1011-1012, Grewal,R.P.,et al, 1991

Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990

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

Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985

Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984

A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014

Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
Neurol 78: e126, Shah, S.,et al, 2012

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

Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978



Showing articles 0 to 26 of 26