Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Journal of Bone and Mineral Research

Volumn 32, Issue 9, 2017, Pages 1893-1899

  Molin, Arnaud ^a,b,c,d   Wiedemann, Arnaud ^e,f   Demers, Nick ^g   Kaufmann, Martin ^g   Do Cao, Jérémy ^e,f   Mainard, Laurent ^e,f   Dousset, Brigitte ^e   Journeau, Pierre ^e,f   Abeguile, Geneviève ^a   Coudray, Nadia ^a   Mittre, Hervé ^a,b,d   Richard, Nicolas ^a,c   Weryha, Georges ^e,f   Sorlin, Arthur ^e   Jones, Glenville ^g   Kottler, Marie Laure ^a,b,c   Feillet, Francois ^e,f,h  

^a CAEN UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE CAEN   (France)

^c Université de Caen Normandie   (France)

^d UNIVERSITÉ DE CAEN   (France)

^e UNIVERSITY HOSPITAL OF NANCY   (France)

^f UNIVERSITÉ DE LORRAINE   (France)

^g QUEEN S UNIVERSITY   (Canada)

^h UNIVERSITÉ DE LORRAINE   (France)

Author keywords

25 HYDROXYLASE; GENETICS; PERSONALIZED MEDICINE; RICKETS; VITAMIN D

Indexed keywords

25 HYDROXYLASE; 25 HYDROXYVITAMIN D; ALFACALCIDOL; CALCIFEDIOL; COLECALCIFEROL; COLECALCIFEROL 24 HYDROXYLASE; OXYGENASE; UNCLASSIFIED DRUG; VITAMIN D; 1,25-DIHYDROXYVITAMIN D; CALCIDIOL 1 MONOOXYGENASE; CHOLESTANETRIOL 26 MONOOXYGENASE; CYP27B1 PROTEIN, HUMAN; CYP2R1 PROTEIN, HUMAN; CYTOCHROME P450 FAMILY 2; ERGOCALCIFEROL;

ARTICLE; BONE DENSITOMETRY; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MALE; MINERAL METABOLISM; MUSCLE BIOPSY; PRESCHOOL CHILD; RICKETS; RICKETS TYPE 1B; SCHOOL CHILD; SIBLING; VITAMIN BLOOD LEVEL; VITAMIN D DEFICIENCY; VITAMIN SUPPLEMENTATION; ADULT; ANALOGS AND DERIVATIVES; BLOOD; CASE REPORT; DEFICIENCY; DIAGNOSTIC ERROR; ENZYMOLOGY; FEMALE; GENETICS; MUTATION;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; ADULT; CHILD; CHILD, PRESCHOOL; CHOLESTANETRIOL 26-MONOOXYGENASE; CYTOCHROME P450 FAMILY 2; DIAGNOSTIC ERRORS; ERGOCALCIFEROLS; FEMALE; HUMANS; MALE; MUTATION; RICKETS; VITAMIN D;

EID: 85027342387     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.3181     Document Type: Article

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