Publikationen

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2021

Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH), De Bonis et al

Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?, Brancatella et al

Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1mutation or SLC34A1 mutation, Kowalska et al

2020

Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report, Mirea et al

Vitamin D supplementation in pregnancy: A word of caution. Familial hypercalcaemia due to disordered vitamin D metabolism, Mcdonald et al

Simultaneous measurement of 25(OH)-vitamin D and 24,25(OH)2-vitamin D to define cut-offs for CYP24A1 mutation and vitamin D deficiency in a population of 1200 young subjects, Cavalier et al

2019

Idiopathic Infantile Hypercalcemia: Mutations in SLC34A1 and CYP24A1 in Two Siblings and Fathers, Güven et al

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype, De Paolis et al

Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene, Kurnaz et al.

Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report., Kang SJ et al.

CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia, Sun Y et al.

Severe hypercalcemic Crisis in an Infant with idiopathic infantile Hypercalcemia caused by Mutation in CYP24A1 Gene, Racz et al.

Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature, Cappellani et al.

Infantile Nephrocalcinosis Resulting From a Pathogenic CYP24A1 Mutation, Murphy et al.

Use of vitamin D drops leading to kidney failure in a 54-year-old man, Auguste et al.

Biochemical and clinical features of a family with a novel mutation of CYP24A1, Brancatella et al.

24,25-dihydroxyvitamin D: a new biomarker in non-parathyroid hypercalcemia diagnosis, Vranken et al.

Three Sisters With Heterozygous Gene Variants of CYP24A1: Maternal Hypercalcemia, New-Onset Hypertension, and Neonatal Hypoglycemia, Hedberg et al.

2018

Juvenile onset IIH and CYP24A1 mutations, Schlingmann et al.

CYP3A4 mutation causes vitamin D–dependent rickets type 3, Roizen et al.

Idiopatic Infantile Hypercalcemia presenting in Childhood but diagnosed in Adulthood, Silvestre et al.

CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia, Madsen et al.

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic InfantileHypercalcemia, Molin et al.

Vitamin D Toxicity–A Clinical Perspective, Marcinowska et al.

A rapid screening of a recurrent CYP24A1pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH), de Paolis et al.

Mechanistic Insight into Species-specific Redox Partner Interactions in the Vitamin D Carbon-24 Hydroxylase CYP24A1, Kumar et al.

2017

A Case Report of Compound Heterozygous CYP24A1 Mutations Leading to Nephrolithiasis Successfully Treated with Ketoconazole, Davidson Peiris et al.

novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass, Ferraro PM et al.

CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations, Carpenter et al.

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases, Pronicka et al.

Reference intervals for serum 24,25-dihydroxyvitamin D and the ratio with 25-hydroxyvitamin D established using a newly developed LC-MS/MS method, Tang JCY et al.

Improved Screening Test of idiopatic infantile Hypercalcemia confirms residual Levels of Serum 24,25-(OH)2D3 in affected Patients, Kaufmann et al.

Clinical and Biochemical Features of Patient with CYP24A1 Mutations, Hill & Sayer

CYP3A4 induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients with CYP24A1 Mutations, Hawkes et al.

A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up, Ertl et al.

Genetic disorders of Vitamin D biosynthesis and degradation, Miller

2016

Hypercalcemia in pregnancy – a multifaceted challenge: case reports and literature review, Rey et al.

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia, Schlingmann et al.

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia, Gigante et al.

Vitamin D-mediated Hypercalcemia: Mechanisms, Diagnosis and Treatment, Tebben et al.

LC-MS/MS for Identifying Patients with CYP24A1 Mutations, Ketha et al.

A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis Caused by CYP24A1 Deficiency, Woods et al.

Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency, Dinour et al.

Hypercalcemic Pancreatitis Triggered by Pregnancy With a CYP24A1 Mutation, Kwong et al.

2015

Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake, Dinour et al.

Idiopathic Infantile Hypercalcemia, Presenting in Adulthood–No Longer Idiopathic Nor Infantile: Two Case Reports and Review, Tray KA et al.

Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study, Cools et al.

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations, Figueres et al.

Discordant Clinical Course of Vitamin- D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis, Jobst-Schwan et al.

Idiopathic infantile hypercalcemia: case report and review of the literature, Marks & Doyle

Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole, Sayers et al.

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait, Molin et al.

Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations, Shah et al.

Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis, Jobst-Schwan et al.

Quantitation of CYP24A1 Enzymatic Activity With a Simple Two-Hybrid System, Mugg et al.

Whole blood gene expression analysis in idiopathic infantile hypercalcemia due to compound heterozygous mutation in the CYP24A1 gene in an Austrian 4-month-old boy and his family, Hofer et al.

Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis, Sayer

2014

Idiopatische infantile Hyperkalzämie aufgrund homozygoter CYP24A1-Mutation mit chronischer Niereninsuffizienz, Heindl-Rusai, K. et al.

Clinical Utility of Simultaneous Quantitation of 25-Hydroxyvitamin D and 24,25-Dihydroxyvitamin D by LC-MS/MS Involving Derivatization With DMEQ-TAD, Kaufmann et al.

A Lifetime of Hypercalcemia and Hypercalciuria, Finally Explained, Jacobs et al.

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure, Colussi et al.

Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis, Dascupta et al.

A Case of “Late-Onset” Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene, Wolf et al.

2013

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

Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene, Fencl et al.

Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis, Dinour et al.

Lightwood Syndrome Revisited with a Novel Mutation in CYP24 and Vitamin D Supplement Recommendations, Castanet et al.

Idiopathic infantile hypercalcemia. Acute care Management an subsequent Diagnosis, Doyle et al.

Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation, Meusburger et al.

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure, Colussi et al.

Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia, Skalova et al.

2012

25-Hydroxyvitamin D-24-hydroxylase (CYP24A1): its important role in the degradation of vitamin D, Jones et al.

A New Look at Vitamin D Metabolism and “Idiopathic” Hypercalcemia, Simonds

Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia, Dauber et al.

Investigation and management of hypercalcaemia in children, Davies et al.

Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1Mutations: Effects of Ketoconazole Therapy, Tebben et al.

2011

Mutations in CYP24A1 and Idiopathic Infantile Hypercalcemia, Schlingmann et al. 

CYP24A1 Mutations in Idiopathic Infantile Hypercalcemia, Hong-Fang Ji

Neue Störung im Vitamin-D-Metabolismus: 24-Hydroxylase (CYP24A1)-Defekt, Artikel von Prof. Dr. med. Ernst Leumann

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