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Showing articles 0 to 12 of 12 Filter Applied: enzyme,defect (Click to remove) A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis) NEJM 370:1830-1841, Case 14-2014, 2014 Inherited Metabolic Diseases of the Nervous System, Galactosemia Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014 Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014 Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome NEJM 348:33-40, Hayflick,S.J.,et al, 2003 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 Acute Profound Dystonia in Infants with Glutaric Acidemia Pediatrics 83:228-234, Bergman,I.,et al, 1989 Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings Neurol 39:741-742, Friedman,J.H.,et al, 1989 Acid Maltase Deficiency Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986 Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome NEJM 305:1106-1111, Lloyd,K.G.,et al, 1981 Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency NEJM 303:377-380, Hirschhorn,R.,et al, 1980 Showing articles 0 to 12 of 12