Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

BACKGROUND: Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in the Indian population, due to lack of a thorough study of the clinical and molec...

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Detalles Bibliográficos
Autores principales: Bijarnia-Mahay, Sunita, Häberle, Johannes, Jalan, Anil B., Puri, Ratna Dua, Kohli, Sudha, Kudalkar, Ketki, Rüfenacht, Véronique, Gupta, Deepti, Maurya, Deepshikha, Verma, Jyotsna, Shigematsu, Yosuke, Yamaguchi, Seiji, Saxena, Renu, Verma, Ishwar C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167905/
https://www.ncbi.nlm.nih.gov/pubmed/30285816
http://dx.doi.org/10.1186/s13023-018-0908-1

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