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

• मुख्य लेखकों: Nataliya V. Zhurkova (लेखक), Nato V. Vashakmadze (लेखक), Nataliya S. Sergienko (लेखक), Anastasiya N. Dudina (लेखक), Mariya S. Karaseva (लेखक), Liliya R. Selimzyanova (लेखक), Anna Yu. Rachkova (लेखक), Yuliya Yu. Kotalevskaya (लेखक), Andrey N. Surkov (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: "Paediatrician" Publishers LLC, 2023-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...