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Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation

BACKGROUND: NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old female...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:BMC Med Genet
मुख्य लेखकों: Ge, Haixia, Wu, Qingbin, Lu, Huigang, Huang, Yong, Zhou, Tingting, Tan, Danlin, ZhongqinJin
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2020
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7310492/
https://ncbi.nlm.nih.gov/pubmed/32576142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01067-1
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