Cognitive Delay in a 7-year-old Girl
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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
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Clinicopathologic Conference, Legionella Infection Complicated by Rhabdomyolysis
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
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3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
Neurol 75:1079-1083, Wortmann,S.B.,et al, 2010
Vigabatrin Improves Paroxysmal Dystonia in Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 68:1320-1321, Leuzzi,V.,et al, 2007
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Adult Onset Glutaric Aciduria Type I Presenting with a Leukoencephalopathy
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Megalencephaly in the Neonatal Period as the Initial Manifestation of Glutaric Aciduria Type 1
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Hereditary Defect of Cobalamin Metabolism (cblG Mutation) Presenting as a Neurologic Disorder in Adulthood
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