Enter your terms above and click the 'Search' button.

Showing articles 0 to 12 of 12 Filter Applied: enzyme,defect (Click to remove) Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 Glycogen-Storage Disease Type II eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006 Aromatic L-Amino Acid Decarboxylase Deficiency Neurol 62:1058-1065, Pons,R.,et al, 2004 Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome NEJM 348:33-40, Hayflick,S.J.,et al, 2003 Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities Ann Neurol 39:343-351, Rahman,S.,et al, 1996 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 Canavan Disease:From Spongy Degeneration to Molecular Analysis J Pediatr 127:511-517, Matalon,R.,et al, 1995 Inborn Errors of Urea Synthesis Ann Neurol 35:133-141, Batshaw,M.L., 1994 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 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 Showing articles 0 to 12 of 12