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Showing articles 0 to 13 of 13

Filter Applied: enzyme,defect (Click to remove)

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

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

Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023

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

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

Clumsiness, Confusion, Coma, and Valproate
Lancet 353:1408, Ellaway,C.J.,et al, 1999

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

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,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

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

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

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

Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
NEJM 303:377-380, Hirschhorn,R.,et al, 1980



Showing articles 0 to 13 of 13