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1

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Antonio Rossi, Hans J. van der Harten, Frits A. Beemer, Wim J. Kleijer, Richard Gitzelmann, Beat Steinmann, A. Superti-Furga

Journal:

Year:

1996

Language:

english

File:

PDF, 158 KB

english, 1996

2

Increased mediastinal pressure and decreased cardiac output during laparoscopic Nissen fundoplication

Mark A Talamini, Mario Mendoza-Sagaon, Christopher A Gitzelmann, Syed Ahmad, Robert Moesinger, Michael Kutka, Thomas Toung

Journal:

Year:

1997

Language:

english

File:

PDF, 851 KB

english, 1997

3

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

Schnorf, H, Gitzelmann, R, Bosshard, N U, Spycher, M, Waespe, W

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1995

Language:

english

File:

PDF, 1006 KB

english, 1995

4

A chondrodysplasia family produced by mutations in thediastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations

Superti-Furga, Andrea, Rossi, Antonio, Steinmann, Beat, Gitzelmann, Richard

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 476 KB

1996

5

Novel mutations in 13 probands with galactokinase deficiency

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

Journal:

Year:

2000

Language:

english

File:

PDF, 242 KB

english, 2000

6

Dorsal flexion of head and neck for rigid oesophagoscopy – a caution for hidden foreign bodies dropped into the epipharynx

C. A. Gitzelmann, C. Gysin, M. Weiss

Journal:

Acta Anaesthesiologica Scandinavica

Year:

2003

Language:

english

File:

PDF, 204 KB

english, 2003

7

Book reviews

Cyril A. Clarke, Richard Gitzelmann, R. J. Wood

Journal:

Year:

1986

Language:

english

File:

PDF, 476 KB

english, 1986

8

Five years of experience with biodegradable implants in paediatric surgery

O. E. Illi, C. A. Gitzelmann, B. Gasser, F. Misteli, M. Ruedi

Journal:

Journal of Materials Science: Materials in Medicine

Year:

1994

Language:

english

File:

PDF, 814 KB

english, 1994

9

Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test

P. A. Dremsek, M. Sacher, W. Stögmann, R. Gitzelmann, C. Bachmann

Journal:

European Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 195 KB

english, 1985

10

Anomalous eosinophil granulocytes in blood and bone marrow: a diagnostic marker for infantile GM1-gangliosidosis?

R. Gitzelmann, M. A. Spycher, S. Adank, K. Baerlocher, B. Steinmann

Journal:

European Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 905 KB

english, 1985

11

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

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

Journal:

Biochemical Genetics

Year:

1991

Language:

english

File:

PDF, 588 KB

english, 1991

12

Inability of galactose to mobilize insulin in galactokinase-deficient individuals

R. Gitzelmann, R. Illig

Journal:

Year:

1969

Language:

english

File:

PDF, 287 KB

english, 1969

13

Clinical and therapeutic aspects of non-ketotic hyperglycinaemia

R. Gitzelmann, B. Steinmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1982

Language:

english

File:

PDF, 594 KB

english, 1982

14

Appearance of active UDP-galactose 4′-epimerase in cells cultured from epimerase-deficient persons

R. Gitzelmann, E. Haigis

Journal:

Journal of Inherited Metabolic Disease

Year:

1978

File:

PDF, 37 KB

1978

15

Menkes' disease: Clinical, therapeutic and biochemical studies

K. E. Baerlocher, B. Steinmann, V. H. Rao, R. Gitzelmann, N. Horn

Journal:

Journal of Inherited Metabolic Disease

Year:

1983

Language:

english

File:

PDF, 264 KB

english, 1983

16

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia and ketoacidosis

R. Gitzelmann, B. Steinmann, A. Niederwieser, S. Fanconi, T. Suormala, R. Baumgartner

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 178 KB

english, 1987

17

Oral cornstarch therapy: Is persorption harmless?

R. Gitzelmann, M. A. Spycher

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 468 KB

english, 1993

18

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

A. Superti-Furga, B. Steinmann, R. Gitzelmann, G. Eich, A. Giedion, H. U. Bucher, J. Wisser, A. Superti-Furga

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 1.26 MB

english, 1995

19

Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii

R. Gitzelmann, U. V. Arbenz, U. V. Willi

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 1.63 MB

english, 1992

20

Liver glycogen synthase deficiency: A rarely diagnosed entity

R. Gitzelmann, M. A. Spycher, G. Feil, J. Müller, B. Seilnacht, M. Stahl, N. U. Bosshard

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 2.40 MB

english, 1996

21

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

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

Journal:

European Journal of Pediatrics

Year:

1991

Language:

english

File:

PDF, 789 KB

english, 1991

22

Cell transformation of frozen human fibroblasts by a strong magnetic field? — A reinvestigation

E. Haigis, R. Gitzelmann, H. Ott

Journal:

Cellular and Molecular Life Sciences

Year:

1981

Language:

english

File:

PDF, 112 KB

english, 1981

23

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

R. Gitzelmann, N. U. Bosshard

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 564 KB

english, 1993

24

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

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

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 1.21 MB

english, 1993

25

Galactose-1-phosphate in the pathophysiology of galactosemia

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 450 KB

english, 1995

26

Concluding remarks

Stanton Segal, Richard Gitzelmann, Beat Steinmann, Susanne Schweitzer, Kurt Ullrich

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 54 KB

english, 1995

27

Microcephaly and maternal phenylketonuria

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

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 122 KB

english, 1996

28

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

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

Journal:

Biochemical Genetics

Year:

1991

Language:

english

File:

PDF, 588 KB

english, 1991

29

Infant dumping syndrome: Reversal of symptoms by feeding uncooked starch

R. Gitzelmann, J. Hirsig

Journal:

European Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 260 KB

english, 1986

30

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

R. Vervoort, Richard Gitzelmann, W. Lissens, Inge Liebaers

Journal:

Year:

1998

Language:

english

File:

PDF, 205 KB

english, 1998

31

The infantile inguinal hernia – a bilateral disease?

M. G. Schwöbel, H. Schramm, C. A. Gitzelmann

Journal:

Pediatric Surgery International

Year:

1999

Language:

english

File:

PDF, 75 KB

english, 1999

32

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

R. Gitzelmann, I. Forster, U. V. Willi

Journal:

European Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 362 KB

english, 1997

33

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

R. Vervoort, Richard Gitzelmann, Nils Bosshard, Irène Maire, Inge Liebaers, W. Lissens

Journal:

Year:

1998

Language:

english

File:

PDF, 151 KB

english, 1998

34

Molecular diagnosis of type 1c glycogen storage disease

A. R. Janecke, Nils U. Bosshard, Ertan Mayatepek, Andreas Schulze, Richard Gitzelmann, Ann Burchell, Claus R. Bartram, Bart Janssen

Journal:

Year:

1999

Language:

english

File:

PDF, 72 KB

english, 1999

35

Early peritoneal macrophage function after laparoscopic surgery compared with laparotomy in a mouse mode

U. Moehrlen, F. Schwöbel, E. Reichmann, U. Stauffer, C. A. Gitzelmann, J. Hamacher.

Journal:

Surgical Endoscopy

Year:

2005

Language:

english

File:

PDF, 185 KB

english, 2005

36

Impact of carbon dioxide versus air pneumoperitoneum on peritoneal cell migration and cell fate

U. Moehrlen, U. Ziegler, E. Boneberg, E. Reichmann, C. A. Gitzelmann, M. Meuli, J. Hamacher

Journal:

Surgical Endoscopy

Year:

2006

Language:

english

File:

PDF, 182 KB

english, 2006

37

Early peritoneal macrophage function after laparoscopic surgery compared with laparotomy in a mouse model

U. Moehrlen, F. Schwoebel, E. Reichmann, U. Stauffer, C. A. Gitzelmann, J. Hamacher

Journal:

Surgical Endoscopy

Year:

2005

File:

PDF, 47 KB

2005

38

Comparison of the stress response after laparoscopic and open cholecystectomy

M. Mendoza-Sagaon, E. J. Hanly, M. A. Talamini, M. F. Kutka, C. A. Gitzelmann, K. Herreman-Suquet, B. F. Poulose, C. N. Paidas, A. De Maio

Journal:

Surgical Endoscopy

Year:

2000

Language:

english

File:

PDF, 548 KB

english, 2000

39

Predictive value of naitfold capillaroscopy in patients with Raynaud’s phenomenon

Madeleine Meli, Gabriela Gitzelmann, Renate Koppensteiner, Beatrice R. Amann-Vesti

Journal:

Clinical Rheumatology

Year:

2006

Language:

english

File:

PDF, 1.04 MB

english, 2006

40

Tracheal tube tip displacement during laparoscopy in children

S. Böttcher-Haberzeth, A. Dullenkopf, C. A. Gitzelmann, M. Weiss

Journal:

Year:

2007

Language:

english

File:

PDF, 548 KB

english, 2007

41

Microangiopathy of Split-Skin Grafts in Venous Ulcers

Beatrice R. Amann-Vesti, Corinne Ruesch, Gabriele Gitzelmann, Juerg Hafner, Renate Koppensteiner

Journal:

Dermatologic Surgery

Year:

2004

Language:

english

File:

PDF, 326 KB

english, 2004

42

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

R. Barone, H. Carchon, E. Jansen, L. Pavone, A. Fiumara, N.U. Bosshard, R. Gitzelmann, J. Jaeken

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 104 KB

english, 1998

43

Glycogenosis type I (glucose 6-phosphatase deficiency): ultrastructural alterations of hepatocytes in a tumor bearing liver

M. A. Spycher, R. Gitzelmann

Journal:

Virchows Archiv B Cell Pathology Zell-pathologie

Year:

1971

Language:

english

File:

PDF, 2.71 MB

english, 1971

44

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

Hendrickx, J., Bosshard, N. U., Willems, P., Gitzelmann, R.

Journal:

European Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 155 KB

english, 1998

45

Disaccharidase of rabbit small intestine: Intracellular distribution, solubilization, purification and specificity

Richard Gitzelmann, Eugene A. Davidson, Joseph Osinchak

Journal:

Biochimica et Biophysica Acta (BBA) - Specialized Section on Enzymological Subjects

Year:

1964

Language:

english

File:

PDF, 2.93 MB

english, 1964

46

Galactose Metabolism in a Patient with Hereditary Galactokinase Deficiency

Richard Gitzelmann, Henry J. Wells, Stanton Segal

Journal:

European Journal of Clinical Investigation

Year:

1974

Language:

english

File:

PDF, 568 KB

english, 1974

47

Galactose Metabolism in a Patient with Hereditary Galactokinase Deficiency

Prof. Richard Gitzelmann, Henry J. Wells, Stanton Segal

Journal:

European Journal of Clinical Investigation

Year:

1974

Language:

english

File:

PDF, 611 KB

english, 1974

48

The brush border membrane in hereditary sucrase—isomaltase deficiency: abnormal protein pattern and presence of immunoreactive enzyme

A. U. FREIBURGHAUS, R. DUBS, B. HADORN, H. GAZE, H. P. HAURI, R. GITZELMANN

Journal:

European Journal of Clinical Investigation

Year:

1977

Language:

english

File:

PDF, 453 KB

english, 1977

49

Transplacental Transfer of Leukocyte Agglutinins

W. H. Hitzig, R. Gitzelmann

Journal:

Year:

1959

Language:

english

File:

PDF, 590 KB

english, 1959

50

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

Ellen A.C.M. van Beurden, Michelle de Graaf, Udo Wendel, Richard Gitzelmann, Ruud Berger, Inge E.T. van den Berg

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 168 KB

english, 1997

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