R GITZELMANN
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Explore the profile of R GITZELMANN including associated specialties, affiliations and a list of published articles.
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135
Citations
1208
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Recent Articles
1.
Kolosha V, Anoia E, DE CESPEDES C, GITZELMANN R, Shih L, Casco T, et al.
Hum Mutat
. 2000 May;
15(5):447-53.
PMID: 10790206
Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13...
2.
Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard N, et al.
Am J Hum Genet
. 1999 Oct;
65(5):1299-307.
PMID: 10521295
Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the development of cataracts in the first weeks of life. It has...
3.
Janecke A, Bosshard N, Mayatepek E, Schulze A, GITZELMANN R, Burchell A, et al.
Hum Genet
. 1999 May;
104(3):275-7.
PMID: 10323254
Glycogen storage disease type 1 (GSD 1) results from deficiency of the microsomal multicomponent glucose-6-phosphatase system. Malfunction of the catalytic subunit characterises GSD 1a. GSD 1b and GSD 1c are...
4.
Vervoort R, GITZELMANN R, Lissens W, Liebaers I
Hum Genet
. 1999 Jan;
103(6):686-93.
PMID: 9921904
We have previously sequenced the complete coding region and the promoter region of the beta-glucuronidase gene of a patient with mild mucopolysaccharidosis type VII (MPS VII) and identified a nonsense...
5.
Hendrickx J, Bosshard N, Willems P, GITZELMANN R
Eur J Pediatr
. 1998 Dec;
157(11):919-23.
PMID: 9835437
Unlabelled: Phosphorylase kinase (PHK) is a regulatory enzyme in glycogen metabolism. Mutations in the gene encoding the alpha subunit of PHK (PHKA2) have been shown to be responsible for X-linked...
6.
Orho M, Bosshard N, Buist N, GITZELMANN R, Aynsley-Green A, BLUMEL P, et al.
J Clin Invest
. 1998 Aug;
102(3):507-15.
PMID: 9691087
Glycogen storage disease type 0 (GSD-0) is a rare form of fasting hypoglycemia presenting in infancy or early childhood and accompanied by high blood ketones and low alanine and lactate...
7.
Barone R, Carchon H, Jansen E, Pavone L, Fiumara A, Bosshard N, et al.
J Inherit Metab Dis
. 1998 May;
21(2):167-72.
PMID: 9584269
From 10 patients with carbohydrate-deficient glycoprotein (CDG) syndrome due to phosphomannomutase (PMM) deficiency, out of 10 lysosomal enzymes, 7 enzyme activities were measured in serum and 9 in leukocytes. In...
8.
Vervoort R, GITZELMANN R, Bosshard N, Maire I, Liebaers I, Lissens W
Hum Genet
. 1998 Mar;
102(1):69-78.
PMID: 9490302
Deficiency of beta-glucuronidase is the cause of the human lysosomal storage disorder mucopolysaccharidosis type VII (MPS VII). The wide interfamilial variation in the presentation of this disorder complicates clinical diagnosis....
9.
GITZELMANN R, Forster I, Willi U
Eur J Pediatr
. 1997 Sep;
156(9):719-22.
PMID: 9296538
Unlabelled: Hypergalactosaemia was found in 4 day-old boy during newborn screening. He had no enzyme deficiency but an intrahepatic vascular malformation permitting significant portosystemic venous shunting. The shunt caused hyperammonaemia,...
10.
van Beurden E, de Graaf M, Wendel U, GITZELMANN R, Berger R, van den Berg I
Biochem Biophys Res Commun
. 1997 Jul;
236(3):544-8.
PMID: 9245685
To facilitate mutation analysis of patients with an autosomal recessive form of liver phosphorylase kinase deficiency, the genomic structure of the gene encoding the testis/liver gamma subunit (PHKG2) was established....