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vitamin D dependent rickets type Ⅰ , pseudo vitamin D deficiency rickets相关文献:
Genetic disorders of Vitamin D biosynthesis and degradation.
Miller WL.
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):101-108. doi: 10.1016/j.jsbmb.2016.04.001. Epub 2016 Apr 6.
PMID:27060335
Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation.
Füchtbauer L, Brusgaard K, Ledaal P, Frost M, Frederiksen AL.
Clin Case Rep. 2015 Nov 5;3(12):1012-6. doi: 10.1002/ccr3.406. eCollection 2015 Dec.
PMID:26734137
1alpha-Hydroxylase and the action of vitamin D.
Hewison M, Zehnder D, Bland R, Stewart PM.
J Mol Endocrinol. 2000 Oct;25(2):141-8. doi: 10.1677/jme.0.0250141.
PMID:11013342
Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1).
Wiedemann A, Renard E, Molin A, Weryha G, Oussalah A, Guéant JL, Feillet F.
Calcif Tissue Int. 2020 Aug;107(2):191-194. doi: 10.1007/s00223-020-00704-4. Epub 2020 May 19.
PMID:32430692
The renal function of 25-hydroxyvitamin D3-1alpha-hydroxylase.
Zehnder D, Hewison M.
Mol Cell Endocrinol. 1999 May 25;151(1-2):213-20. doi: 10.1016/s0303-7207(99)00039-8.
PMID:10411336
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
Wang JT, Lin CJ, Burridge SM, Fu GK, Labuda M, Portale AA, Miller WL.
Am J Hum Genet. 1998 Dec;63(6):1694-702. doi: 10.1086/302156.
PMID:9837822
Hypercalciuria and nephrolithiasis on long-term follow-up of pseudo-vitamin D deficiency rickets.
Laway BA, Wani AI, Masoodi SR, Bashir MI, Ganie MA, Zargar AH.
J Pak Med Assoc. 2010 Jul;60(7):591-3.
PMID:20578617
The effects of 1,25-dihydroxyvitamin D-3 deficiency on Ca(2+)-transport and Ca(2+)-uptake into brush-border membrane vesicles from pig small intestine.
Kaune R, Kassianoff I, Schröder B, Harmeyer J.
Biochim Biophys Acta. 1992 Aug 24;1109(2):187-94. doi: 10.1016/0005-2736(92)90082-w.
PMID:1520695
Effects of calcitriol on stimulation of ion transport in pig jejunal mucosa.
Schröder B, Kaune R, Harmeyer J.
J Physiol. 1991 Feb;433:451-65. doi: 10.1113/jphysiol.1991.sp018437.
PMID:1841952
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