Jean‐Pierre Colombo

University of Bern — Switzerland

Biochemistry, Genetics and Molecular Biology · Life Sciences

12h-index564citations22works0.02yr avg
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Research Topics

Metabolism and Genetic Disorders(14), Amino Acid Enzymes and Metabolism(7), Diet and metabolism studies(5), Biochemical and Molecular Research(4), Mitochondrial Function and Pathology(3)

Publications22 total

Effect of Increasing Dietary Threonine Intakes on Amino Acid Metabolism of the Central Nervous System and Peripheral Tissues in Growing Rats
Pediatric Research·1998· 62 citedOpen Access
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
Human Mutation·1998· 2 cited
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation inCPS1
Human Mutation·1998· 37 cited
Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females
Human Mutation·1997· 11 cited
Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females
Human Mutation·1997· 1 cited
Tyrosine Uptake and Regional Brain Monoamine Metabolites in a Rat Model Resembling Congenital Hyperammonemia
Pediatric Research·1996· 14 citedOpen Access
Identification of four novel splice site mutations in the ornithine transcarbamylase gene
Human Genetics·1996· 12 cited
Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms
Human Mutation·1996· 3 cited
Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms
Human Mutation·1996· 20 cited
Ornithine transcarbamylase deficiency: new sites with increased probability of mutation
Human Genetics·1995· 30 cited
Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome
Human Genetics·1992· 3 cited
Effect of Different Protein Diets on the Distribution of Amino Acids in Plasma, Liver and Brain in the Rat
Annals of Nutrition and Metabolism·1992· 57 cited
The Renal Handling of Carnitine in Patients with Selective Tuhulopathy and with Fanconi Syndrome
Pediatric Research·1987· 25 citedOpen Access
Increased tryptophan uptake into the brain in hyperammonemia
Life Sciences·1983· 59 cited
Introduction
1982
Short chain fatty acids in plasma and brain: Quantitative determination by gas chromatography
Clinica Chimica Acta·1979· 114 cited
Quantitative gaschromatographic determination of short chain aldehydes and ketones in the urine of infants
Clinica Chimica Acta·1976· 7 cited
Isolation and Identification of the Urinary Pigment Uroerythrin
European Journal of Biochemistry·1975· 33 citedOpen Access
Pancreatic Function in Alloxan “Subdiabetic” Rats Long-term Treated with Tolbutamide
Diabetes·1961· 9 cited
Enzymatic Determination of Glucose. Stabilization of Color Developed by Oxidation of o-Dianisidine
Analytical Chemistry·1961· 51 cited
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Frequent Co-authors

Bendicht Wermuth(6), Elisabeth Oppliger Leibundgut(6), Sabina Liechti‐Gallati(6), C. Bachmann(5), Heidi Cervantes(3), J Weber(3), Doris Kanameishi(3), Piero P. Foà(3), Josef Berüter(2), Milica Kokorovic(2), Rachel Perritaz(2), Guido Guidotti(2), Ulrich Finckh(2), Alfried Kohlschütter(2), Hansjörg Schäfer(2), Katja Sperhake(2), Andreas Gal(2), Günther Boehm(1), G. Georgi(1), Jürgen Jelinek(1)