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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

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2010
2010
Endogenous arene hydroxylation promoted by copper(I) cluster helicates.
A novel neutral triple-stranded hexanuclear copper(I) cluster helicate [Cu(I)(6)L(3)]·2CH(3)CN derived from a thiosemicarbazone… 
2007
2007
Regioselective arene hydroxylation mediated by a (mu-peroxo)diiron(III) complex: a functional model for toluene monooxygenase.
Diiron(II) complexes, [Fe2(LPh4)(RCO2)]2+ (R = Ph3C or Ph), react with dioxygen to generate peroxodiiron(III) complexes [Fe2(LPh4… 
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… 
1997
1997
Stereoselective 4'-hydroxylation of phenytoin: relationship to (S)-mephenytoin polymorphism in Japanese.
AIMS The aim of this study was to clarify whether phenytoin (PHT) stereoselective hydroxylation cosegregates with (S)-mephenytoin… 
1979
1979
In vitro metabolism and activation of carcinogenic aromatic amines by subcellular fractions of human liver.
Abstract In vitro metabolism and metabolic activation of 2-acetylaminofluorene (AAF), 2-aminofluorene, and 2,4-diaminoanisole to… 
1976
1976
Aldrin epoxidation, dihydroisodrin hydroxylation, and p-chloro-N-methylaniline demethylation in six species of saturniid larvae.
Aldrin epoxidation, dihydroisodrin hydroxylation, and p -chloro- N -methylaniline demethylation were measured in cell-free tissue… 
Highly Cited
1974
Highly Cited
1974
Carnitine and trimethylaminobutyrate synthesis in rat tissues.
Liver and testis slices convert 6-N-trimethyl-lysine into 4-N-trimethylaminobutyrate and carnitine. Adipose, skeletal muscle… 
Highly Cited
1972
Highly Cited
1972
The role of superoxide radical in a nonenzymatic hydroxylation.
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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