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Filter Applied: enzyme,defect (Click to remove)

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

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

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

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

Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014

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

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003

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

Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998

Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997

Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995

Psychiatric Disturbances in Metachromatic Leukodystrophy
Arch Neurol 49:401-406, Hyde,T.M.,et al, 1992

Inborn Errors of Metabolism in Children Referred with Reye's Syndrome, A Changing Pattern
JAMA 260:3167-3170, 3178-31801988., Rowe,P.C.,et al, 1988

Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986

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

Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984

Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
NEJM 305:1106-1111, Lloyd,K.G.,et al, 1981

Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980

Possible Biochemical Basis of Memory Disorder in Alzheimer Disease
Ann Neurol 3:471, Smith,C.M.,et al, 1978

Adult-onset GM2 Gangliosidosis
Neurol 28:1117-1123, O'Neill,B.,et al, 1978

Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome
NEJM 296:210, VanWoert,M.H.,et al, 1977

Abnormality of a Thiamine-Requiring Enzyme in Patients with Wernicke-Korsakoff Syndrome
NEJM 297:1367, Blass,J.P.,et al, 1977

Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977



Showing articles 0 to 24 of 24