CLINICAL CASE OF METHYLMALONIC ACIDEMIA

CLINICAL CASE OF METHYLMALONIC ACIDEMIA

The paper describes a clinical case of methylmalonic acidemia in a newborn premature baby with a aggravated genealogical and obstetric history. The problems of diagnosing aminoacidopathy as a large heterogeneous group of hereditary diseases, which, as a rule, manifest in early childhood and are acco...

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Main Authors: Elena Anatolyevna Tkachuk, Darya Mikhailovna Barykova, Yuliya Sergeevna Livadarova, Igor Zhanovich Seminsky, Tatyana Alexandrovna Astakhova, Elena Gennadievna Osipova, Yuliya Viktorovna Mikhelsone, Tatyana Yuryevna Dorofeeva, Nikolay Vasilyevich Syrkin, Maria Igorevna Krasnova, Anna Viktorovna Rudakova, Daria Yuryevna Alexandrova
Format: Article
Language:English
Published: Ministry of Health of the Russian Federation, Irkutsk State Medical University 2023-03-01
Series:Байкальский медицинский журнал
Subjects:
methylmalonic acidemia, hereditary metabolic disorders, newborns, pathogenesis of amino acid metabolism disorders
Online Access:https://www.bmjour.ru/jour/article/view/42
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