Please enable Javascript

Labmeeting uses lots of Javascript - basically you can't use the site without it. So please enable Javascript in your browser. If your browser does not support Javascript, we recommend Firefox.

Papers authored by Gitzelmann R

Collect these papers and discover other ones on Labmeeting. Learn more.

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.

+ cite this

+ View Abstract

Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C,

(show remaining authors)

Pediatric research 51(5):602-6, 2002 May - Who cited this? | PubMed ID: 11978884 | Fulltext

Novel mutations in 13 probands with galactokinase deficiency.

+ cite this

+ View Abstract

Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, and Stambolian D

Human mutation 15(5):447-53, 2000 - Who cited this? | PubMed ID: 10790206 | Fulltext

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

+ cite this

+ View Abstract

Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L,

(show remaining authors)

American journal of human genetics 65(5):1299-307, 1999 Nov - Who cited this? | PubMed ID: 10521295 | Fulltext

Molecular diagnosis of type 1c glycogen storage disease.

+ cite this

+ View Abstract

Janecke AR, Bosshard NU, Mayatepek E, Schulze A, Gitzelmann R, Burchell A, Bartram CR, and Janssen B

Human genetics 104(3):275-7, 1999 Mar - Who cited this? | PubMed ID: 10323254 | Fulltext

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.

+ cite this

+ View Abstract

Vervoort R, Gitzelmann R, Lissens W, and Liebaers I

Human genetics 103(6):686-93, 1998 Dec - Who cited this? | PubMed ID: 9921904 | Fulltext

Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.

+ cite this

+ View Abstract

Hendrickx J, Bosshard NU, Willems P, and Gitzelmann R

European journal of pediatrics 157(11):919-23, 1998 Nov - Who cited this? | PubMed ID: 9835437 | Fulltext

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

+ cite this

+ View Abstract

Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P, Gannon MC, Nuttall FQ, and Groop LC

The Journal of clinical investigation 102(3):507-15, 1998 Aug 1 - Who cited this? | PubMed ID: 9691087 | Fulltext

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

+ cite this

+ View Abstract

Barone R, Carchon H, Jansen E, Pavone L, Fiumara A, Bosshard NU, Gitzelmann R, and Jaeken J

Journal of inherited metabolic disease 21(2):167-72, 1998 Apr - Who cited this? | PubMed ID: 9584269 | Fulltext

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

+ cite this

+ View Abstract

Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, and Lissens W

Human genetics 102(1):69-78, 1998 Jan - Who cited this? | PubMed ID: 9490302 | Fulltext

Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt.

+ cite this

+ View Abstract

Gitzelmann R, Forster I, and Willi UV

European journal of pediatrics 156(9):719-22, 1997 Sep - Who cited this? | PubMed ID: 9296538 | Fulltext

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).

+ cite this

+ View Abstract

van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, and van den Berg IE

Biochemical and biophysical research communications 236(3):544-8, 1997 Jul 30 - Who cited this? | PubMed ID: 9245685 | Fulltext

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.

+ cite this

+ View Abstract

Rossi A, van der Harten HJ, Beemer FA, Kleijer WJ, Gitzelmann R, Steinmann B, and Superti-Furga A

Human genetics 98(6):657-61, 1996 Dec - Who cited this? | PubMed ID: 8931695 | Fulltext

Microcephaly and maternal phenylketonuria.

+ cite this

Superti-Furga A, Steinmann B, Duc G, and Gitzelmann R

European journal of pediatrics 155(11):992, 1996 Nov - Who cited this? | PubMed ID: 8911906 | Fulltext

Mucolipidosis type II in a domestic shorthair cat.

+ cite this

+ View Abstract

Hubler M, Haskins ME, Arnold S, Kaser-Hotz B, Bosshard NU, Briner J, Spycher MA, Gitzelmann R, Sommerlade HJ, and von Figura K

The Journal of small animal practice 37(9):435-41, 1996 Sep - Who cited this? | PubMed ID: 8887204 | Fulltext

Liver glycogen synthase deficiency: a rarely diagnosed entity.

+ cite this

+ View Abstract

Gitzelmann R, Spycher MA, Feil G, Müller J, Seilnacht B, Stahl M, and Bosshard NU

European journal of pediatrics 155(7):561-7, 1996 Jul - Who cited this? | PubMed ID: 8831078 | Fulltext

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

+ cite this

Superti-Furga A, Hästbacka J, Rossi A, van der Harten JJ, Wilcox WR, Cohn DH, Rimoin DL, Steinmann B, Lander ES, and Gitzelmann R

Annals of the New York Academy of Sciences 785:195-201, 1996 Jun 8 - Who cited this? | PubMed ID: 8702127 | Fulltext

[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review].

+ cite this

+ View Abstract

Schnorf H, Bosshard NU, Gitzelmann R, Spycher MA, Isler P, and Waespe W

Schweizerische medizinische Wochenschrift 126(18):757-64, 1996 May 4 - Who cited this? | PubMed ID: 8693300 | Fulltext

A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.

+ cite this

+ View Abstract

Superti-Furga A, Rossi A, Steinmann B, and Gitzelmann R

American journal of medical genetics 63(1):144-7, 1996 May 3 - Who cited this? | PubMed ID: 8723100 | Fulltext

Gaucher disease: four families with previously undescribed mutations.

+ cite this

+ View Abstract

Beutler E, Gelbart T, Balicki D, Demina A, Adusumalli J, Elsas L, Grinzaid KA, Gitzelmann R, Superti-Furga A, Kattamis C, and Liou BB

Proceedings of the Association of American Physicians 108(3):179-84, 1996 May - Who cited this? | PubMed ID: 8774051 | Fulltext

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

+ cite this

Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, and Gitzelmann R

Nature genetics 12(1):100-2, 1996 Jan - Who cited this? | PubMed ID: 8528239 | Fulltext

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

+ cite this

+ View Abstract

Bosshard NU, Hubler M, Arnold S, Briner J, Spycher MA, Sommerlade HJ, von Figura K, and Gitzelmann R

Veterinary pathology 33(1):1-13, 1996 Jan - Who cited this? | PubMed ID: 8826001 | Fulltext

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

+ cite this

+ View Abstract

Schnorf H, Gitzelmann R, Bosshard NU, Spycher M, and Waespe W

Journal of neurology, neurosurgery, and psychiatry 59(5):520-3, 1995 Nov - Who cited this? | PubMed ID: 8530938 | Fulltext

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

+ cite this

+ View Abstract

Superti-Furga A, Eich G, Bucher HU, Wisser J, Giedion A, Gitzelmann R, and Steinmann B

European journal of pediatrics 154(3):215-9, 1995 Mar - Who cited this? | PubMed ID: 7758520 | Fulltext

Partial deficiency of galactose-1-phosphate uridyltransferase.

+ cite this

+ View Abstract

Gitzelmann R and Bosshard NU

European journal of pediatrics 154(7 Suppl 2):S40-4, 1995 - Who cited this? | PubMed ID: 7671963 | Fulltext

Galactose-1-phosphate in the pathophysiology of galactosemia.

+ cite this

+ View Abstract

Gitzelmann R

European journal of pediatrics 154(7 Suppl 2):S45-9, 1995 - Who cited this? | PubMed ID: 7671964 | Fulltext

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

+ cite this

+ View Abstract

Boesiger P, Buchli R, Meier D, Steinmann B, and Gitzelmann R

Pediatric research 36(4):436-40, 1994 Oct - Who cited this? | PubMed ID: 7816517 | Fulltext

Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.

+ cite this

+ View Abstract

Gitzelmann R, Bosshard NU, Superti-Furga A, Spycher MA, Briner J, Wiesmann U, Lutz H, and Litschi B

Veterinary pathology 31(4):435-43, 1994 Jul - Who cited this? | PubMed ID: 7941232 | Fulltext

Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

+ cite this

+ View Abstract

Ali M, Tunçman G, Cross NC, Vidailhet M, Bökesoy I, Gitzelmann R, and Cox TM

Journal of medical genetics 31(6):499-503, 1994 Jun - Who cited this? | PubMed ID: 8071980 | Fulltext

Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin).

+ cite this

+ View Abstract

Superti-Furga A, Rocchi M, Schäfer BW, and Gitzelmann R

Genomics 17(2):463-7, 1993 Aug - Who cited this? | PubMed ID: 8104875 | Fulltext

Oral cornstarch therapy: is persorption harmless?.

+ cite this

+ View Abstract

Gitzelmann R and Spycher MA

European journal of pediatrics 152(7):592-4, 1993 Jul - Who cited this? | PubMed ID: 8354319 | Fulltext

Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor.

+ cite this

+ View Abstract

Schmitt B, Steinmann B, Gitzelmann R, Thun-Hohenstein L, Mascher H, and Dumermuth G

Neurology 43(2):421-4, 1993 Feb - Who cited this? | PubMed ID: 8437713 | Fulltext

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.

+ cite this

+ View Abstract

Superti-Furga A, Schoenle E, Tuchschmid P, Caduff R, Sabato V, DeMattia D, Gitzelmann R, and Steinmann B

European journal of pediatrics 152(1):44-50, 1993 Jan - Who cited this? | PubMed ID: 7680315 | Fulltext

Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review.

+ cite this

+ View Abstract

Gitzelmann R and Bosshard NU

European journal of pediatrics 152 Suppl 1:S33-8, 1993 - Who cited this? | PubMed ID: 8391445 | Fulltext

Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.

+ cite this

+ View Abstract

Gitzelmann R, Arbenz UV, and Willi UV

European journal of pediatrics 151(8):564-8, 1992 Aug - Who cited this? | PubMed ID: 1505572 | Fulltext

Essential fructosuria: increased levels of fructose 3-phosphate in erythrocytes.

+ cite this

+ View Abstract

Petersen A, Steinmann B, and Gitzelmann R

Enzyme 46(6):319-23, 1992 - Who cited this? | PubMed ID: 1308858 | Fulltext

[H2-breath test after fructose loading].

+ cite this

Gitzelmann R

Deutsche medizinische Wochenschrift (1946) 116(28-29):1122, 1991 Jul 12 - Who cited this? | PubMed ID: 2065598 | Fulltext

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.

+ cite this

+ View Abstract

Superti-Furga A, Steinmann B, Duc G, and Gitzelmann R

European journal of pediatrics 150(7):493-7, 1991 May - Who cited this? | PubMed ID: 1915502 | Fulltext

Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency.

+ cite this

+ View Abstract

Stephenson C, Brivet M, Gautier M, Deschatrette J, Gitzelmann R, and Karran P

Biochemical genetics 29(3-4):135-44, 1991 Apr - Who cited this? | PubMed ID: 1859354 | Fulltext

[Myopathy in the adult form of glycogenosis II. Two case reports and review of the literature].

+ cite this

+ View Abstract

Horstmann S, Meier C, Mumenthaler M, and Gitzelmann R

Fortschritte der Neurologie-Psychiatrie 58(9):343-50, 1990 Sep - Who cited this? | PubMed ID: 2175729 | Fulltext

Collagen degradation in I-cells is normal.

+ cite this

+ View Abstract

Bienkowski RS, Ripley CR, Gitzelmann R, and Steinmann B

Biochemical and biophysical research communications 168(2):479-84, 1990 Apr 30 - Who cited this? | PubMed ID: 2334418 | Fulltext

[A case from practice (172). Hereditary fructose intolerance].

+ cite this

Huwyler T, Gitzelmann R, Burger R, and Wüthrich B

Schweizerische Rundschau fur Medizin Praxis = Revue suisse de medecine Praxis 79(15):474-6, 1990 Apr 10 - Who cited this? | PubMed ID: 2336502 | Fulltext

[Adults with hereditary fructose intolerance: risks of fructose infusion].

+ cite this

+ View Abstract

Steegmanns I, Rittmann M, Bayerl JR, and Gitzelmann R

Deutsche medizinische Wochenschrift (1946) 115(14):539-41, 1990 Apr 6 - Who cited this? | PubMed ID: 1969793 | Fulltext

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

+ cite this

+ View Abstract

Okano Y, Wang T, Eisensmith RC, Steinmann B, Gitzelmann R, and Woo SL

American journal of human genetics 46(1):18-25, 1990 Jan - Who cited this? | PubMed ID: 1967207 | Fulltext

Patients with hereditary fructose intolerance have normal erythrocyte aldolase activity.

+ cite this

+ View Abstract

Gitzelmann R, Steinmann B, and Tuchschmid P

Clinica chimica acta; international journal of clinical chemistry 181(2):163-6, 1989 May 15 - Who cited this? | PubMed ID: 2736779 | Fulltext

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

+ cite this

+ View Abstract

Sullivan SE, Moore SD, Connor JM, King M, Cockburn F, Steinmann B, Gitzelmann R, Daiger SP, and Woo SL

American journal of human genetics 44(5):652-9, 1989 May - Who cited this? | PubMed ID: 2565077 | Fulltext

Egasyn affects the processing of beta-glucuronidase in mouse liver.

+ cite this

+ View Abstract

Pfister K, Bosshard N, Zopfi M, and Gitzelmann R

The Biochemical journal 255(3):825-32, 1988 Nov 1 - Who cited this? | PubMed ID: 3214427 | Fulltext

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.

+ cite this

+ View Abstract

Superti-Furga A, Gugler E, Gitzelmann R, and Steinmann B

The Journal of biological chemistry 263(13):6226-32, 1988 May 5 - Who cited this? | PubMed ID: 2834369 | Fulltext

The renal handling of carnitine in patients with selective tubulopathy and with Fanconi syndrome.

+ cite this

+ View Abstract

Steinmann B, Bachmann C, Colombo JP, and Gitzelmann R

Pediatric research 21(2):201-4, 1987 Feb - Who cited this? | PubMed ID: 3822602 | Fulltext

[Mucopolysaccharidosis 6-A (Maroteaux-Lamy disease): comparison of clinical and pathologico-anatomic findings in a 27-year-old patient].

+ cite this

+ View Abstract

Keller C, Briner J, Schneider J, Spycher M, Rampini S, and Gitzelmann R

Helvetica paediatrica acta 42(4):317-33, 1987 - Who cited this? | PubMed ID: 3127360 | Fulltext

Infant dumping syndrome: reversal of symptoms by feeding uncooked starch.

+ cite this

+ View Abstract

Gitzelmann R and Hirsig J

European journal of pediatrics 145(6):504-6, 1986 Dec - Who cited this? | PubMed ID: 3816853 | Fulltext

Search Google Scholar for Gitzelmann R

Join Labmeeting

Organize and search your PDF collection
Collect papers
Search millions of papers
Keep up to date with paper alerts
Read your papers from anywhere
Recommend papers to colleagues
Manage your lab

Labmeeting is a web service for researchers. Sign up with your academic email address.

Individuals or corporations not affiliated with an academic institution can request a trial subscription.

Got a question?
The Labmeeting Network
has the answer.
Ask scientists at top universities like Harvard, Stanford, and MIT for their expert opinion!