title: CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.
abstract: BACKGROUND
  Loss-of-function mutations of CYP24A1 (which encodes the 25-OH-D3-24-hydroxylase) have recently been reported to cause hypercalcemia.
  
  
  OBJECTIVE
  The aims of this study were: 1) to evaluate the frequency of CYP24A1 mutations in patients with medical history of hypercalcemia; 2) to show the clinical utility of a simultaneous assay of serum 25-hydroxyvitamin D3 (25-OH-D3) and 24,25-dihydroxyvitamin D3 (24,25-[OH]2D3) by liquid chromatography tandem mass spectrometry (LC-MS/MS); and 3) to investigate biochemical parameters in heterozygous gene carriers with CYP24A1 mutations.
  
  
  METHODS
  We screened for CYP24A1 mutations in 72 patients with serum calcium levels > 2.6 mmol/L and PTH levels < 20 pg/mL and recruited 24 relatives after genetic counseling for subsequent investigations. Vitamin D metabolite concentrations were assessed in a subset of patients by LC-MS/MS and results expressed as a ratio (R) of 25-OH-D3:24,25-(OH)2D3.
  
  
  RESULTS
  Twenty-five patients with hypercalcemia (35%) harbored CYP24A1 variations. Twenty (28%) had biallelic variations, mostly found in subjects with nephrocalcinosis or renal stones (19/20). Five patients, all neonates, were heterozygous, without renal disease. We describe 15 new variations leading to loss-of-function according to pathogenicity prediction programs, and we functionally characterized 5 of them in vitro. A dramatic increase of R, usually >80, was found in patients harboring biallelic mutations providing evidence in vivo for the loss of CYP24A1 activity. In contrast, R value remains <25 in patients without CYP24A1 mutations. Subjects carrying one mutant allele, hypercalcemic individuals, as well as gene-carrier relatives, had a detectable 24,25-(OH)2D3 level and R < 25, indicating normal 24-hydroxylase activity.
  
  
  CONCLUSIONS
  CYP24A1 biallelic mutations are frequently found in patients presenting with hypercalcemia, low PTH, and renal disease. We confirm the accuracy and effectiveness of a novel blood test estimating the ratio between relevant vitamin D metabolites as a useful screening tool for CYP24A1 mutations. Haploinsufficiency is not associated with CYP24A1 deficiency.
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: A
authors.initials: A
authors.lastname: Molin
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: R
authors.initials: R
authors.lastname: Baudoin
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: M
authors.initials: M
authors.lastname: Kaufmann
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: J C
authors.initials: JC
authors.lastname: Souberbielle
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: A
authors.initials: A
authors.lastname: Ryckewaert
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: M C
authors.initials: MC
authors.lastname: Vantyghem
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: P
authors.initials: P
authors.lastname: Eckart
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: J
authors.initials: J
authors.lastname: Bacchetta
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: G
authors.initials: G
authors.lastname: Deschenes
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: G
authors.initials: G
authors.lastname: Kesler-Roussey
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: N
authors.initials: N
authors.lastname: Coudray
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: N
authors.initials: N
authors.lastname: Richard
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: M
authors.initials: M
authors.lastname: Wraich
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: Q
authors.initials: Q
authors.lastname: Bonafiglia
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: A
authors.initials: A
authors.lastname: Tiulpakov
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: G
authors.initials: G
authors.lastname: Jones
authors.affiliation: Department of Genetics and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism (A.M., N.C., N.R., M.-L.K.), University Hospital, 14033 Caen, France; University Caen Basse-Normandie (A.M., M.-L.K.), Medical School, Caen, France; Department of Endocrinology (R.B.), University Hospital, 33000 Bordeaux, France; Department of Biomedical and Molecular Sciences (M.K., M.W., Q.B., G.J.), Queen's University, Kingston, Canada; Department of Physiology (J.C.S.), Necker University Hospital, 75015 Paris, France; Department of Pediatrics (A.R.), University Hospital, 35200 Rennes, France; Department of Endocrinology (M.C.V.), University Hospital, 59000 Lille, France; Department of Pediatrics (P.E.), University Hospital, Caen, France; Department of Pediatrics (J.B.), University Hospital, 69000 Lyon, France; Department of Pediatrics (G.D.), Robert Debre Hospital, Assistance Publique-Hôpitaux de Paris, 75019 Paris, France; Nephrology & Pediatrics (G.K.-R.), University Hospital, 44093 Nantes, France; Endocrinology Research Centre (A.T.), Moscow 117036, Russia; and INSERM U1075 COMETE (M.-L.K.), University of Caen Basse-Normandy, 14032 Caen, France.
authors.forename: M-L
authors.initials: ML
authors.lastname: Kottler
mesh_terms: D015650:24,25-Dihydroxyvitamin D 3 / Q000097:blood; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002118:Calcium / Q000097:blood; D002648:Child; D002675:Child, Preschool; D002853:Chromatography, Liquid; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010281:Parathyroid Hormone / Q000097:blood; D053719:Tandem Mass Spectrometry; D014807:Vitamin D / Q000031:analogs & derivatives / Q000097:blood; D065668:Vitamin D3 24-Hydroxylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D010281:Parathyroid Hormone; C118756:dihydroxy-vitamin D3; D014807:Vitamin D; D015650:24,25-Dihydroxyvitamin D 3; D065668:Vitamin D3 24-Hydroxylase; D002118:Calcium