Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Vitamin D-hydroxylasemangelbedingte Rachitis Typ 1A

Die Vitamin D-hydroxylasemangelbedingte Rachitis vom Typ 1A ist eine Vitamin D-abhängige Rachitis, die durch einen Funktionsverlust der 1-alpha-Hydroxylase (CYP27B1) bedingt ist.

Gliederung

Hereditäre Rachitis
Hypophosphatasie
Hypophosphatämische Knochen- und Nierenerkrankung
Vitamin D-abhängige Rachitis Typ 2A
Vitamin D-abhängige Rachitis Typ 2B
Vitamin D-hydroxylasemangelbedingte Rachitis Typ 1A
CYP27B1
Vitamin D-hydroxylasemangelbedingte Rachitis Typ 1B

Referenzen:

1.

De Braekeleer M et al. (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada).

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2.

DeLuca HF et al. (1969) Current concepts. Vitamin D.

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3.

Labuda M et al. (1992) Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14.

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4.

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].

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5.

Zietkiewicz E et al. (1992) Linkage mapping by simultaneous screening of multiple polymorphic loci using Alu oligonucleotide-directed PCR.

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6.

Labuda M et al. (1990) Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis.

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7.

Sinnett D et al. (1990) Alumorphs--human DNA polymorphisms detected by polymerase chain reaction using Alu-specific primers.

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8.

Winkler I et al. (1986) Absence of renal 25-hydroxycholecalciferol-1-hydroxylase activity in a pig strain with vitamin D-dependent rickets.

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9.

Scriver CR et al. (1978) Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease.

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10.

Bouchard G et al. (1985) [Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach].

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11.

Reitz RE et al. (1973) Parathyroid hormone secretion in familial vitamin-D-resistant rickets.

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12.

Fraser D et al. (1973) Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

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13.

Hamilton R et al. (1970) The small intestine in vitamin D dependent rickets.

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14.

Scriver CR et al. (1970) Vitamin D dependency.

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15.

Dent CE et al. (1968) Hereditary pseudo-vitamin D deficiency rickets. ("Hereditare pseudo-mangelrachitis").

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16.

Matsuda I et al. (1969) Laboratory findings in a child with pseudo-vitamin D deficiency rickets.

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17.

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.

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18.

Delvin EE et al. (1981) Vitamin D dependency: replacement therapy with calcitriol?

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19.

Takeyama K et al. (1997) 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis.

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20.

Kitanaka S et al. (1998) Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

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21.

Wang JT et al. (1998) Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.

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