3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
Clinicopathologic Conference, Legionella Infection Complicated by Rhabdomyolysis
NEJM 391:1039-1048, Case 29-2024, 2024
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012
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
Neurol 59:1802-1804, Bahr,O.,et al, 2002
Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
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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