A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Dipsticks and Convulsions
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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A 27-Year Old Man with Rapidly Progressive Coma
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
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J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
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Inherited Metabolic Diseases of the Nervous System, Maple Syrup Urine Disease
Adams & Victors Principles of Neurology, Chp 37, pg 953, Ropper, A.H.,et al, 2014
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Agenesis of the Corpus Callosum:A Marker for Inherited Metabolic Disease
Neurol 39:847-848, Kolodny,E.H., 1989
Agenesis of the Corpus Callosum and Gyral Malformations are Frequent Manifestations of Nonketotic Hyperglycinemia
Neurol 39:817-820, Dobyns,W.B., 1989
Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
J Pediatr 113:1022-1027, Heidenreich,R.,et al, 1988