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Vitamin D Hydroxylation-Deficient Rickets, Type 1B

Known as: Vitamin D-Dependent Rickets, Type 1B, 25-Hydroxyvitamin D3 Deficiency, Selective, Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency 
National Institutes of Health

Related topics

Related topics

10 relations
Abnormality of the lower limbAutosomal recessive inheritanceBone painCYP2R1, LEU99PRO

Broader (1)

Familial Hypophosphatemic Rickets

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
CYP2R1 mutations causing vitamin D-deficiency rickets
Highly Cited
2010
Highly Cited
2010
Abnormalities in Oxygen Sensing Define Early and Late Onset Preeclampsia as Distinct Pathologies
Background The pathogenesis of preeclampsia, a serious pregnancy disorder, is still elusive and its treatment empirical. Hypoxia… 
Highly Cited
2005
Highly Cited
2005
Late-stage intermolecular CH activation for lead diversification: a highly chemoselective oxyfunctionalization of the C-9 position of potent bryostatin analogues.
Treatment of highly potent and densely functionalized bryostatin analogue 1 with dimethyldioxirane afforded the C-9 hydroxylated… 
Highly Cited
2002
Highly Cited
2002
What factors affect the regioselectivity of oxidation by cytochrome p450? A DFT study of allylic hydroxylation and double bond epoxidation in a model reaction.
Epoxidation (C=C) vis-à-vis allylic hydroxylation (C-H) reactions of propene with a model compound I (Cpd I) of the enzyme… 
Highly Cited
2002
Highly Cited
2002
Regioselectivity and Activity of Cytochrome P450 BM‐3 and Mutant F87A in Reactions Driven by Hydrogen Peroxide
Cytochrome P450 BM-3 (EC 1.14.14.1) is a monooxygenase that utilizes NADPH and dioxygen to hydroxylate fatty acids at subterminal… 
Review
2000
Review
2000
Hypersensitive radical probes and the mechanisms of cytochrome P450-catalyzed hydroxylation reactions.
The title probes are precursors to kinetically calibrated, aryl-substituted cyclopropylcarbinyl radicals that rearrange with… 
Highly Cited
1993
Highly Cited
1993
Absorption, metabolism, and excretion of risperidone in humans.
The absorption, metabolism, and excretion of the novel antipsychotic risperidone was studied in three healthy male subjects. One… 
Highly Cited
1986
Highly Cited
1986
Hydroxylation of p-nitrophenol by rabbit ethanol-inducible cytochrome P-450 isozyme 3a.
The hydroxylation of p-nitrophenol to 4-nitrocatechol was investigated using rabbit hepatic microsomes and six purified isozymes… 
Highly Cited
1971
Highly Cited
1971
Oxygenated cytochrome P-450 and its possible role in enzymic hydroxylation.
Highly Cited
1957
Highly Cited
1957
The biochemistry of aromatic amines. III. Enzymic hydroxylation by rat-liver microsomes.
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