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Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases

Background. Methylmalonic aciduria (MMA) is a rare disease from the group of hereditary metabolic diseases. The MMA clinical picture is polymorphic and meanwhile similar to other metabolic disorders. Determination of specific metabolites in biological fluids and molecular genetic testing are crucial...

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Principais autores: Olga V. Bugun, Galina P. Bogonosova, Tatyana A. Astakhova, Tatyana A. Bairova, Natalya N. Martynovich, Darya M. Barycova, Tatyana Y. Belkova, Yuliya S. Livadarova, Nanalya I. Sysoeva
Formato: Artigo
Idioma:Inglês
Publicado em: "Paediatrician" Publishers LLC 2024-05-01
coleção:Вопросы современной педиатрии
Assuntos:
methylmalonic aciduria
organic acidurias
hereditary metabolic diseases
clinical case
Acesso em linha:https://vsp.spr-journal.ru/jour/article/view/3453
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