Výsledky vyhledávání - "Waheeb, AlDhalaan"

A Rare Case of Adenosine Deaminase tRNA-Specific 3 Mutation, Adrenal Insufficiency, and Rhabdomyolysis

Autor: Waheeb AlDhalaan, Afaf Alsagheir, Haroon A. Javaid, Faaezuddin Syed, Sami Almustanyir

Publikováno v: Cureus

Adenosine deaminase t-RNA-specific 3 (ADAT3) gene, present on chromosome 19, encodes for an enzyme responsible for deamination of adenosine to inosine. Individuals with ADAT3 mutation display microcephaly, dysmorphic features, neurological, behaviour

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73475a7984ba67444199d2d7ac6055a3
https://doi.org/10.7759/cureus.19833

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Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation

Autor: Muhammad, Faiyaz-Ul-Haque, Waheeb, AlDhalaan, Abdullah, AlAshwal, Bassam S, Bin-Abbas, Afaf, AlSagheir, Maram, Alotaiby, Zulqurnain, Rafiq, Syed H E, Zaidi

Publikováno v: Journal of pediatric endocrinologymetabolism : JPEMReferences. 31(8)

Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c313e1a0771b308269ffdb34a78275dc
https://pubmed.ncbi.nlm.nih.gov/29949513

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