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Literature DB >> 6031738

[An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism].

J Brodehl, K Gellissen, S Kowalewski.

Abstract

Entities: Chemical Disease Mutation

Mesh：

Substances：

Year: 1967 PMID： 6031738 DOI： 10.1007/bf01745737

Source DB: PubMed Journal: Klin Wochenschr ISSN： 0023-2173

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24 in total

1. CYSTINURIA: DEFECTIVE INTESTINAL TRANSPORT OF DIBASIC AMINO ACIDS AND CYSTINE.

Authors: S O THIER; S SEGAL; M FOX; A BLAIR; L E ROSENBERG
Journal: J Clin Invest Date: 1965-03 Impact factor: 14.808

2. Aminoacid metabolism in cystinuria.

Authors: A M ASATOOR; B W LACEY; D R LONDON; M D MILNE
Journal: Clin Sci Date: 1962-10 Impact factor: 6.124

3. The effect of intravenous lysine on the renal clearances of cystine, arginine and ornithine in normal subjects, in patients with cystinuria and Fanconi syndrome and in their relatives.

Authors: E B ROBSON; G A ROSE
Journal: Clin Sci Date: 1957-02 Impact factor: 6.124

4. Phenotypes and genotypes in cystinuria.

Authors: H HARRIS; U MITTWOCH; E B ROBSON; F L WARREN
Journal: Ann Hum Genet Date: 1955-08 Impact factor: 1.670

5. Quantitative studies on the urinary cystine in patients with cystine stone formation and in their relatives.

Authors: H HARRIS; F L WARREN
Journal: Ann Eugen Date: 1953-09

6. Hyperlysinemia associated with retardation.

Authors: H Ghadimi; V I Binnington; P Pecora
Journal: N Engl J Med Date: 1965-09-30 Impact factor: 91.245

7. Heterozygotes for cystinuria.

Authors: J C Crawhall; E P Saunders; C J Thompson
Journal: Ann Hum Genet Date: 1966-03 Impact factor: 1.670

8. [Changes of renal function in cystinosis. II. Aminoacid clearances].

Authors: W Hagge; J Brodehl
Journal: Ann Paediatr Date: 1965

9. Cystinuria: biochemical evidence for three genetically distinct diseases.

Authors: L E Rosenberg; S Downing; J L Durant; S Segal
Journal: J Clin Invest Date: 1966-03 Impact factor: 14.808

10. Sulphocysteine in the urine of the blotched Kenya genet.

Authors: J C Crawhall; S Segal
Journal: Nature Date: 1965-12-25 Impact factor: 49.962

12 in total

1. Differential diagnosis of (inherited) amino acid metabolism or transport disorders.

Authors: W Blom; J G Huijmans
Journal: Amino Acids Date: 1992-02 Impact factor: 3.520

2. Comparative study of the uptake of L-cysteine and L-cystine in the renal proximal tubule.

Authors: S Riahi-Esfahani; H Jessen; H Røigaard
Journal: Amino Acids Date: 1995-09 Impact factor: 3.520

3. The tubular reabsorption of L-cystine and L-cysteine. A common transport system with L-arginine or not?

Authors: S Silbernagl; P Deetjen
Journal: Pflugers Arch Date: 1972 Impact factor: 3.657

4. Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney.

Authors: C R Scriver
Journal: J Clin Invest Date: 1968-04 Impact factor: 14.808