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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Cognitive Delay in a 7-year-old Girl
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Dipsticks and Convulsions
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Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
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J Pediatr 113:1022-1027, Heidenreich,R.,et al, 1988
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
A 27-Year Old Man with Rapidly Progressive Coma
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3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
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Overview of Phenylketonuria
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
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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
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
Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Agenesis of the Corpus Callosum and Gyral Malformations are Frequent Manifestations of Nonketotic Hyperglycinemia
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