1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. - Wikidata - wikimedia - TriplyDB

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

http://www.wikidata.org/entity/Q36733570

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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD Calcium and phosphorus regulatory hormones and risk of incident symptomatic kidney stones Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes.A lifetime of hypercalcemia and hypercalciuria, finally explained.A nontoxic case of vitamin D toxicity.Genetic Variants Associated with Circulating Parathyroid Hormone.Tubular and genetic disorders associated with kidney stones.A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up.The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment.Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole.The hypercalcaemia of CYP24A1 inactivation: new ways to improve diagnosis and treatment.A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.A Case Report of Compound Heterozygous CYP24A1 Mutations Leading to Nephrolithiasis Successfully Treated with Ketoconazole.A Case Report of Compound Heterozygous CYP24A1 Mutations Leading to Nephrolithiasis Successfully Treated with Ketoconazole.Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients.CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.The When, What & How of Measuring Vitamin D Metabolism in Clinical Medicine.Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure.

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

http://www.wikidata.org/entity/Q36733570

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

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Clinical Journal of the American Society of Nephrology

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

@en

P2093

Carla Ciccone

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Cornelius F Boerkoel

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David Adams

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Galina Nesterova

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Gretchen Golas

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Kaori Yasuda

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Marjan Huizing

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May Christine Malicdan

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Michael T Collins

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Ronald Horst

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P2860

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Common genetic determinants of vitamin D insufficiency: a genome-wide association study

dbSNP: the NCBI database of genetic variation

Kidney stones: a global picture of prevalence, incidence, and associated risk factors

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

Metabolism of A-ring diastereomers of 1alpha,25-dihydroxyvitamin D3 by CYP24A1

Recent progress in enzymology and molecular biology of enzymes involved in vitamin D metabolism

Metabolism of vitamin D3 by cytochromes P450

Impaired 24,25-dihydroxyvitamin D production in anephric human and pig

Regulation of vitamin D-1alpha-hydroxylase and -24-hydroxylase expression by dexamethasone in mouse kidney

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649-657

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10.2215/CJN.05360512

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4

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8

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3613951

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