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Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician

Hereditary amino acid metabolism disorders (aminoacidopathies) are clinically and genetically heterogeneous group of hereditary metabolic diseases caused by enzymes deficiency involved in amino acid metabolism, that finally leads to progressive damage of central nervous system, liver, kidneys, and o...

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Furkejuvvon:
Váldodahkkit: Nataliya V. Zhurkova, Nato V. Vashakmadze, Nataliya S. Sergienko, Anastasiya N. Dudina, Mariya S. Karaseva, Liliya R. Selimzyanova, Anna Yu. Rachkova, Yuliya Yu. Kotalevskaya, Andrey N. Surkov
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: "Paediatrician" Publishers LLC 2023-12-01
Ráidu:Вопросы современной педиатрии
Fáttát:
neonatal screening
aminoacidopathy
hereditary amino acid metabolism disorders
urea cycle disorders
Liŋkkat:https://vsp.spr-journal.ru/jour/article/view/3358
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