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vitamin D dependent rickets type Ⅱ相关文献:
An Overview of Rickets in Children.
Chanchlani R, Nemer P, Sinha R, Nemer L, Krishnappa V, Sochett E, Safadi F, Raina R.
Kidney Int Rep. 2020 Apr 11;5(7):980-990. doi: 10.1016/j.ekir.2020.03.025. eCollection 2020 Jul.
PMID:32647755
Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review.
Mantoanelli L, de Almeida CM, Coelho MCA, Coutinho M, Levine MA, Collett-Solberg PF, Bordallo AP.
Calcif Tissue Int. 2023 Apr;112(4):512-517. doi: 10.1007/s00223-022-01051-2. Epub 2023 Jan 19.
PMID:36656330
The pathophysiology of hypophosphatemia.
Ito N, Hidaka N, Kato H.
Best Pract Res Clin Endocrinol Metab. 2024 Mar;38(2):101851. doi: 10.1016/j.beem.2023.101851. Epub 2023 Nov 30.
PMID:38087658
Vitamin D physiology.
Lips P.
Prog Biophys Mol Biol. 2006 Sep;92(1):4-8. doi: 10.1016/j.pbiomolbio.2006.02.016. Epub 2006 Feb 28.
PMID:16563471
CYP3A4 mutation causes vitamin D-dependent rickets type 3.
Roizen JD, Li D, O'Lear L, Javaid MK, Shaw NJ, Ebeling PR, Nguyen HH, Rodda CP, Thummel KE, Thacher TD, Hakonarson H, Levine MA.
J Clin Invest. 2018 May 1;128(5):1913-1918. doi: 10.1172/JCI98680. Epub 2018 Apr 3.
PMID:29461981
CYP3A4 Mutation Causes Vitamin D-Dependent Rickets Type 3: A Case Report in Saudi Arabia.
Al-Ashwal A, Al Zahrani A, Dammas N, Aletani L, Alhuthil R.
Cureus. 2023 Dec 5;15(12):e49976. doi: 10.7759/cureus.49976. eCollection 2023 Dec.
PMID:38179381
Vitamin D-dependent rickets type I and type II.
Takeda E, Yamamoto H, Taketani Y, Miyamoto K.
Acta Paediatr Jpn. 1997 Aug;39(4):508-13. doi: 10.1111/j.1442-200x.1997.tb03629.x.
PMID:9316302
Hereditary Vitamin-D Dependent Rickets Type II: A Case Report.
Sunuwar N, Gautam S, Twayana A, Adhikari Yadav S, Anjum F, Kandel K.
JNMA J Nepal Med Assoc. 2021 Jul 1;59(238):597-600. doi: 10.31729/jnma.6411.
PMID:34508408
Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report.
Vupperla D, Lunge SB, Elaprolu P.
Indian J Dermatol. 2018 Mar-Apr;63(2):176-179. doi: 10.4103/ijd.IJD_434_17.
PMID:29692463
Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population.
de Brito Chagas J, Cordinhã C, do Carmo C, Alves C, Heath KE, Sousa SB, Gomes C.
J Pediatr Genet. 2021 Oct 25;13(1):43-49. doi: 10.1055/s-0041-1736559. eCollection 2024 Mar.
PMID:38567179
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