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Showing articles 0 to 11 of 11

Filter Applied: enzyme,defect (Click to remove)

Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014

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

Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985

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

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

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

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

Inborn Errors of Urea Synthesis
Ann Neurol 35:133-141, Batshaw,M.L., 1994

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

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

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



Showing articles 0 to 11 of 11