Literature DB >> 24770547

Richard Gitzelmann (23rd February 1930--31st October 2013).

Beat Steinmann1.   

Abstract

Mesh：

Year:  2014        PMID： 24770547     DOI： 10.1007/s00431-014-2322-6

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  17 in total

1.  Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication.

Authors:  R Gitzelmann
Journal:  Helv Paediatr Acta       Date:  1972-06

2.  Formation of galactose-1-phosphate from uridine diphosphate galactose in erythrocytes from patients with galactosemia.

Authors:  R Gitzelmann
Journal:  Pediatr Res       Date:  1969-07       Impact factor: 3.756

3.  Deficiency of erythrocyte galactokinase in a patient with galactose diabetes.

Authors:  R Gitzelmann
Journal:  Lancet       Date:  1965-10-02       Impact factor: 79.321

4.  A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Authors:  L Kalaydjieva; A Perez-Lezaun; D Angelicheva; S Onengut; D Dye; N U Bosshard; A Jordanova; A Savov; P Yanakiev; I Kremensky; B Radeva; J Hallmayer; A Markov; V Nedkova; I Tournev; L Aneva; R Gitzelmann
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

5.  Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease.

Authors:  N U Bosshard; M Hubler; S Arnold; J Briner; M A Spycher; H J Sommerlade; K von Figura; R Gitzelmann
Journal:  Vet Pathol       Date:  1996-01       Impact factor: 2.221

6.  [Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance].

Authors:  D E Müller-Wiefel; B Steinmann; M Holm-Hadulla; L Wille; K Schärer; R Gitzelmann
Journal:  Dtsch Med Wochenschr       Date:  1983-06-24       Impact factor: 0.628

7.  Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

Authors:  A Aynsley-Green; D H Williamson; R Gitzelmann
Journal:  Arch Dis Child       Date:  1977-07       Impact factor: 3.791

8.  Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy.

Authors:  P Boesiger; R Buchli; D Meier; B Steinmann; R Gitzelmann
Journal:  Pediatr Res       Date:  1994-10       Impact factor: 3.756

9.  The diagnosis of hereditary fructose intolerance.

Authors:  B Steinmann; R Gitzelmann
Journal:  Helv Paediatr Acta       Date:  1981-09

10.  Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intolerance.

Authors:  R Gitzelmann; B Steinmann; C Bally; H G Lebherz
Journal:  Biochem Biophys Res Commun       Date:  1974-08-19       Impact factor: 3.575
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