Galactosemia in newborns

Yaxyayeva, Kamola, Xoltayeva, Fotima, Яхяева, Камола, Холтаева, Фотима, Yaxyayeva, Kamola, Xoltayeva, Fotima

Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi · 2025-yil

Annotatsiya

Relevance. Galactosemia is a rare inherited disease that occurs as a result of a genetic mutation blocking the enzymes involved in galactose metabolism. Clinical manifestations are directly related to the accumulation of intermediate metabolites in the body and impaired function of internal organ cells. The aims and objectives of the study: to study the frequency and clinical features of galactosemia in children. Materials and methods of the study. To solve the set tasks, we conducted a study of clinical, anamnestic and laboratory and instrumental examination parameters in children with galactosemia. Research results. The study revealed that the frequency of galactosemia health of the mother, her obstetric and gynecological history, the peculiarities of the course of pregnancy and childbirth do not play a significant role in the development of galactosemia in newborns. Conclusion. We have determined that the age, health of the mother, her obstetric and gynecological history, the peculiarities of the course of pregnancy and childbirth do not play a significant role in the development of galactosemia in newborns.

Maqola ma’lumotlari
MualliflarYaxyayeva, Kamola, Xoltayeva, Fotima, Яхяева, Камола, Холтаева, Фотима, Yaxyayeva, Kamola, Xoltayeva, Fotima
JurnalMedical science of Uzbekistan / O'zbekiston tibbiyot ilmi
NashriyotАндижон давлат тиббиёт институти
ISSN2181-3612
Nashr sanasi2025-04-30
Jild4
Son2
Betlar51-53
TilIngliz
Ilmiy sohaTibbiyot
DOI10.56121/2181-3612-2025-2-51-53
Indeksga qo‘shilgan2026-08-26

DOI: 10.56121/2181-3612-2025-2-51-53 · Maqolaning asl sahifasi

Kalit so‘zlar

galactosemia, newborns, clinical features, complications, галактоземия, новорожденные, клинические особенности, осложнения, galaktozemiya, yangi tug’ilgan chaqaloqlar, klinik xususiyatlar, asoratlar

Ilmiy soha

Tibbiyot

Iqtibos keltirish

APAYaxyayeva, Kamola, Xoltayeva, Fotima, Яхяева, Камола, Холтаева, Фотима, Yaxyayeva, Kamola, & Xoltayeva, Fotima (2025). GALACTOSEMIA IN NEWBORNS. Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 51-53. https://doi.org/10.56121/2181-3612-2025-2-51-53
GOST (OAK)Yaxyayeva, Kamola va b. GALACTOSEMIA IN NEWBORNS // Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi. – 2025. – T. 4, № 2. – P. 51-53. – DOI: 10.56121/2181-3612-2025-2-51-53.
MLAYaxyayeva, Kamola, Xoltayeva, Fotima, Яхяева, Камола, Холтаева, Фотима, Yaxyayeva, Kamola, and Xoltayeva, Fotima. “GALACTOSEMIA IN NEWBORNS.” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 51-53, 2025. https://doi.org/10.56121/2181-3612-2025-2-51-53
ChicagoYaxyayeva, Kamola, Xoltayeva, Fotima, Яхяева, Камола, Холтаева, Фотима, Yaxyayeva, Kamola, and Xoltayeva, Fotima. “GALACTOSEMIA IN NEWBORNS.” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 51-53 (2025). https://doi.org/10.56121/2181-3612-2025-2-51-53
HarvardYaxyayeva, Kamola, Xoltayeva, Fotima, Яхяева, Камола, Холтаева, Фотима, Yaxyayeva, Kamola, and Xoltayeva, Fotima (2025) ‘GALACTOSEMIA IN NEWBORNS’, Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(2), 51-53. https://doi.org/10.56121/2181-3612-2025-2-51-53
BibTeX
@article{yaxyayevakamola2025,
  title = {GALACTOSEMIA IN NEWBORNS},
  author = {Yaxyayeva, Kamola and Xoltayeva, Fotima and Яхяева, Камола and Холтаева, Фотима and Yaxyayeva, Kamola and Xoltayeva, Fotima},
  journal = {Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi},
  year = {2025},
  volume = {4},
  number = {2},
  pages = {51-53},
  doi = {10.56121/2181-3612-2025-2-51-53},
  url = {https://doi.org/10.56121/2181-3612-2025-2-51-53}
}

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