Vitamin D hydroxylation-deficient rickets type 1A is a vitamin D depentend form or rickets that is aused by deficient 1-alpha-hydroxylation of vitamin D (CYP27B1 gene).
| 1. |
None (1969) Current concepts. Vitamin D.
|
| 2. |
Wang JT et al. (1998) Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
|
| 3. |
Kitanaka S et al. (1998) Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.
|
| 4. |
Takeyama K et al. (1997) 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis.
|
| 5. |
Delvin EE et al. (1981) Vitamin D dependency: replacement therapy with calcitriol?
|
| 6. |
Holick MF et al. (1980) The photoproduction of 1 alpha,25-dihydroxyvitamin D3 in skin: an approach to the therapy of vitamin-D-resistant syndromes.
|
| 7. |
Matsuda I et al. (1969) Laboratory findings in a child with pseudo-vitamin D deficiency rickets.
|
| 8. |
Dent CE et al. (1968) Hereditary pseudo-vitamin D deficiency rickets. ("Hereditare pseudo-mangelrachitis").
|
| 9. |
None (1970) Vitamin D dependency.
|
| 10. |
Hamilton R et al. (1970) The small intestine in vitamin D dependent rickets.
|
| 12. |
Reitz RE et al. (1973) Parathyroid hormone secretion in familial vitamin-D-resistant rickets.
|
| 13. |
Bouchard G et al. (1985) [Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach].
|
| 14. |
Scriver CR et al. (1978) Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease.
|
| 15. |
Winkler I et al. (1986) Absence of renal 25-hydroxycholecalciferol-1-hydroxylase activity in a pig strain with vitamin D-dependent rickets.
|
| 16. |
Sinnett D et al. (1990) Alumorphs--human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers.
|
| 17. |
Labuda M et al. (1990) Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis.
|
| 18. |
Zietkiewicz E et al. (1992) Linkage mapping by simultaneous screening of multiple polymorphic loci using Alu oligonucleotide-directed PCR.
|
| 19. |
PRADER A et al. (1961) [An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets].
|
| 20. |
Labuda M et al. (1992) Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14.
|
| 21. |
None (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada).
|
| 22. |
OMIM.ORG article Omim 264700
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