Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020
A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012
Hereditary Defect of Cobalamin Metabolism (cblG Mutation) Presenting as a Neurologic Disorder in Adulthood
NEJM 318:1738-1741, 1752-17541988., Carmel,R.,et al, 1988
Clinicopathologic Conference, Vitamin B12 Deficiency Due to Pernicious Anemia
NEJM 390:747-756, Case 6-2024, 2024
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Clinicopathologic Conference, Legionella Infection Complicated by Rhabdomyolysis
NEJM 391:1039-1048, Case 29-2024, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
A 13-Year-Old Boy with Subacute-Onset Spastic Gait
JAMA Neurol 78:e1-e2, Xie, N.,et al, 2021
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020
Clinicopathologic Conference, Pernicious Anemia (Vitamin B12 Deficiency)
NEJM 380:665-674, Case 5-2019, 2019
Subacute Progressive Sensorimotor Symptoms
BMJ 365:doi:10.1136/bmj.l1923, Francis, A.,et al, 2019
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
AJNR 36:194-201, Baker, E.H.,et al, 2015
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
A Man with Tingling Fingers
BMJ 346:f1443, Larkman, M.,et al, 2013
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Clinicalpathologic Conference, Vitamin B12 Deficiency due to Pernicious Anemia
NEJM 366:1626-1633, Case 13-2012, 2012
MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
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
Symptoms of B12 Deficiency Can Occur in Women of Child Bearing Age Supplemented with Folate
Neurol 58:1572-1573, Drazkowski,J.,et al, 2002
Adult Onset Glutaric Aciduria Type I Presenting with a Leukoencephalopathy
Neurol 59:1802-1804, Bahr,O.,et al, 2002
Increased Plasma Methylmalonic Acid Level Does Not Predict Clinical Manifestations of Vitamin B12 Deficiency
Arch Int Med 161:1534-1541, Hvas,A.,et al, 2001
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
J Pediatr 114:1004-1006, Iafolla,A.K.,et al, 1989
Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
J Pediatr 113:1022-1027, Heidenreich,R.,et al, 1988
Neuropsychiatric Disorders Caused by Cobalamin Deficiency in the Absence of Anemia or Macrocytosis
NEJM 318:1720-1728, 1752-17541988., Lindenbaum,J.,et al, 1988
Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
Ann Neurol 20:364-366, Korf,B.,et al, 1986