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Your search keyword '"Rickets genetics"' showing total 13 results
Start Over Descriptor "Rickets genetics" Language german
13 results on '"Rickets genetics"'

1. [Hereditary pseudovitamin-D-deficiency rickets with alopecia as a consequence of extreme resistance of target organs to 1.25-(OH)2-cholecalciferol. Therapeutic progress in another disorder of vitamin-D-metabolism (author's transl)].

Author

Uhlig R

Subjects
Cholecalciferol therapeutic use, Drug Resistance, Female, Humans, Hydroxycholecalciferols therapeutic use, Infant, Male, Rickets genetics, Alopecia etiology, Rickets drug therapy
Abstract

We report about a pair of Turkish siblings suffering from alopecia and severe rickets. In the elder sister we could show the causal role of extreme resistance of target organs to 1.25-(OH)2-cholecalciferol. The birth of a brother who developed the same symptoms together with two other similar cases in siblings recently published by other authors, made it possible to recognize the disorder as a typical syndrome-like entity, based on a hereditary defect. By successful administration of excessive (and so-far not previously published) doses of Vitamin-D3 a way for therapeutic progress in this new type of vitamin-D-dependent rickets is shown.

Published
1981

3. [Topical clinical problems of vitamin D research (author's transl)].

Author

Schaefer K

Subjects
Anticonvulsants adverse effects, Anticonvulsants therapeutic use, Calcium Metabolism Disorders etiology, Epilepsy drug therapy, Humans, Kidney metabolism, Liver metabolism, Long-Term Care, Osteitis Fibrosa Cystica, Osteomalacia, Osteopathic Medicine, Phosphates metabolism, Rickets etiology, Rickets genetics, Uremia complications, Vitamin D metabolism, Vitamin D Deficiency complications, Vitamin D Deficiency etiology, Vitamin D physiology, Vitamin D Deficiency physiopathology
Published
1974

5. [Intestinal amino acid absorption in vitamin D dependent rickets].

Author

Harmeyer J, Martens H, and Vogelgesang G

Subjects
Age Factors, Animals, Carbon Radioisotopes, Kidney Tubules metabolism, Renal Aminoacidurias metabolism, Rickets metabolism, Swine, Amino Acids metabolism, Intestinal Absorption, Rickets genetics
Abstract

Since structure and specifity of amino acid transport systems are basically similar in kidney and intestines it was suspected that rickets associated with hyperaminoaciduria was linked with defective intestinal amino acid uptake. Therefore amino acid absorption from everted sacs of small intestines was studied in 2 piglets suffering from vitamin D dependent rickets, and 7 healthy piglets using 14-C labelled amino acids. The experiments revealed an unaffected intestinal absorption in the rachitic animals, whereas the uptake decreased significantly with increasing age of the experimental animals. The results from these studies suggest that regulatory factors in the blood system, e.g. increased level of PTH or lack of specific vitamin D metabolites, do not directly affect amino acid transport systems in kidney and intestines. It is concluded that hyperaminoaciduria has to be mediated through specific and thus far unidentified effects at the tubular cell level.

Published
1975

6. [Calcium absorption disorders in pseudo vitamin D deficiency rickets].

Subjects
Calcium urine, Humans, Intestinal Absorption, Rickets drug therapy, Rickets genetics, Vitamin D administration & dosage, Vitamin D Deficiency complications, Vitamin D Deficiency genetics, Calcium metabolism, Rickets metabolism, Vitamin D Deficiency metabolism
Published
1970

7. [On a case of chronic phosphatic diabetes].

Author

Haslinger M

Subjects
Child, Preschool, Female, Humans, Infusions, Parenteral, Vitamin D metabolism, Vitamin D therapeutic use, Phosphates urine, Rickets drug therapy, Rickets genetics
Published
1967

9. [Hereditary forms of rickets].

Author

Fanconi A and Prader A

Subjects
Chromosome Aberrations, Chromosome Disorders, Genes, Recessive, Humans, Hypophosphatasia diagnostic imaging, Infant, Newborn, Male, Radiography, Fanconi Syndrome genetics, Hypophosphatasia genetics, Hypophosphatemia, Familial genetics, Rickets genetics
Published
1972

10. [Hereditary pseudo-vitamin D deficiency rickets].

Author

Fanconi A and Prader A

Subjects
Adult, Calcium, Child, Diagnosis, Differential, Female, Genes, Recessive, Humans, Hypocalcemia diagnosis, Infant, Parathyroid Hormone, Radiography, Rickets diagnostic imaging, Amino Acid Metabolism, Inborn Errors, Hypocalcemia genetics, Rickets genetics, Vitamin D administration & dosage, Vitamin D Deficiency genetics
Published
1969

12. [Vitamin-D-resistant forms of rickets].

Author

Prader A

Subjects
Bone Neoplasms complications, Child, Child, Preschool, Diagnosis, Differential, Female, Humans, Hypophosphatemia, Familial complications, Hypophosphatemia, Familial etiology, Male, Renal Tubular Transport, Inborn Errors complications, Ribs, Rickets genetics, Hypophosphatemia, Familial diagnosis
Published
1973

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