Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome.

Aksu Uzunhan, Tugçe; Uyanik, Bülent; Ersoy, Melike; Türkmenoglu, Yelda

Aksu Uzunhan, Tugçe; Uyanik, Bülent; Ersoy, Melike; Türkmenoglu, Yelda.

Afiliação

Aksu Uzunhan T; Department of Pediatric Neurology, Prof Dr. Cemil Tascioglu City Hospital, Darülaceze Cad. No:27 Sisli, Istanbul, Turkey. tugce.aksuuzunhan@saglik.gov.tr.
Uyanik B; Department of Medical Genetics, Bezmialem Vakif University, Istanbul, Turkey.
Ersoy M; Department of Pediatric Metabolism, Bakirköy Dr. Sadi Konuk Research and Training Hospital, Istanbul, Turkey.
Türkmenoglu Y; Department of Pediatrics, Prof Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey.

Acta Neurol Belg ; 122(1): 255-256, 2022 Feb.

Article em En | MEDLINE | ID: mdl-35122617

Assuntos

Espasmos Infantis; Vitamina B 12; Homozigoto; Humanos; Mutação/genética; Vitamina B 12/uso terapêutico

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Vitamina B 12 Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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