Assistant Professor of Neurology, Boston Children's Hospital

Neurology

Irina A. Anselm, MD practices Neurology. Irina A. Anselm is also published. She has 19 publications published. The lastest publication: "Disease Heterogeneity in Na(+)/Citrate Cotransporter Deficiency.'

Publications

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• Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
• Optic Atrophy and a Leigh-Like Syndrome Due to Mutations in the C12orf65 Gene: Report of a Novel Mutation and Review of the Literature.
• Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges.
• Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.
• Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.
• Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.
• Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency.
• Childhood primary angiitis of the central nervous system: two biopsy-proven cases.
• Progressive intracranial vascular disease with strokes and seizures in a boy with progeria.
• X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.
• Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric Disorders.
• Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
• A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
• Angelman syndrome: Mutations influence features in early childhood.
• Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
• A modern approach to the treatment of mitochondrial disease.
• Disease Heterogeneity in Na(+)/Citrate Cotransporter Deficiency.
• Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.

Schools

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• Leningrad Medical Pediatrics Institute

• Pediatric Med Institute

• New England Med Center

• Umass

Conditions Treated

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• Ataxia
• Concussion
• Convulsions
• Epilepsy
• View All

Doctors Specialties

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• Pediatric Neurology
• Pediatrics
• Neurology

Accepted Insurances

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Education

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• Tufts Medical Center
• University of Massachusetts

Hospital

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• Boston Children's Hospital

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