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Showing articles 0 to 10 of 10 Filter Applied: enzyme,defect (Click to remove) Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis Ann Neurol 18:614-617, Wolf,B.,et al, 1985 Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease Adams & Victors Principles of Neurology, Chp 37, pg 957, 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 Amaurotic Family Idiocy Am J Dis Child 142:53-56, Abt,I.A., 1988 GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families Hum Genet 70:347-354, Giugliani,R.,et al, 1985 Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I) Ann Neurol 7:450-456, Steinman,L.,et al, 1980 Adult Type Neuronal Storage Disease with Neuraminidase Deficiency Ann Neurol 6:232-244, Miyatake,T.,et al, 1979 The Cherry-red Spot-Myoclonus Syndrome Ann Neurol 3:234, Rapin,I.,et al, 1978 Showing articles 0 to 10 of 10