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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Orphanet J Rare Dis
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2018
विषय:
Research
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6167905/
https://ncbi.nlm.nih.gov/pubmed/30285816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0908-1
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