Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria

Acta Paediatrica, International Journal of Paediatrics

Volumn 97, Issue 5, 2008, Pages 665-667

  Søvik, Oddmund ^a,b   Boman, Helge ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

Author keywords

Genetics; Phenylketonuria; Vitamin D dependent rickets

Indexed keywords

CALCITRIOL; CYTOCHROME P450; CYTOCHROME P450 7B1; UNCLASSIFIED DRUG; VITAMIN D;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12Q; CHROMOSOME ARM; COMORBIDITY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; NORWAY; PHENYLKETONURIA; PRIORITY JOURNAL; RICKETS;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; FEMALE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INFANT; NORWAY; PEDIGREE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 41749112265     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.00722.x     Document Type: Article

References (2)

1. Eiken HG, Knappskog PM, Boman H, Thune KS, Kaada G, Motzfeldt K, et al. Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. Eur J Hum Genet 1996 4 : 205 13.
2. Wang JT, Lin CJ, Burridge SM, Fu GK, Labuda M, Portale AA, et al. Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. Am J Hum Genet 1998 63 : 1694 702.