Claude Bachmann


Ontology type: schema:Person     


Person Info

NAME

Claude

SURNAME

Bachmann

Publications in SciGraph latest 50 shown

  • 2016-01 Reference values of amino acids and of common clinical chemistry in plasma of healthy infants aged 1 and 4 months in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2016 Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants in JIMD REPORTS, VOLUME 32
  • 2008-02 Interpretation of plasma amino acids in the follow-up of patients: The impact of compartmentation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2007 Hyperammonämien in PÄDIATRIE
  • 2007 Expression and Function of Agat, Gamt and CT1 in the Mammalian Brain in CREATINE AND CREATINE KINASE IN HEALTH AND DISEASE
  • 2006 Urea cycle disorders in HEPATIC ENCEPHALOPATHY AND NITROGEN METABOLISM
  • 2006 Glial mechanisms of axonal growth protection from ammonia in HEPATIC ENCEPHALOPATHY AND NITROGEN METABOLISM
  • 2005-12 Creatine synthesis and transport during rat embryogenesis: Spatiotemporal expression of AGAT, GAMT and CT1 in BMC DEVELOPMENTAL BIOLOGY
  • 2005-04 Increased NO production in lysinuric protein intolerance in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2003-12 Plasma amino acids as substrates and nutrition-dependent markers in MONATSSCHRIFT KINDERHEILKUNDE
  • 2003-12 Long-term outcome of patients with urea cycle disorders and the question of neonatal screening in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-06 Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation in EUROPEAN JOURNAL OF PEDIATRICS
  • 2001 Stoffwechselkrankheiten in PÄDIATRIE
  • 1996-06 Tyrosine Uptake and Regional Brain Monoamine Metabolites in a Rat Model Resembling Congenital Hyperammonemia in PEDIATRIC RESEARCH
  • 1996-03 Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995-03 3-Hydroxyisobutyric aciduria with a mild clinical course in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-01 Pitfalls in aminoacid and organic acid analysis: 3-Hydroxypropionic aciduria in EUROPEAN JOURNAL OF PEDIATRICS
  • 1992-12 Hartnup syndrome, progressive encephalopathy and allo-albuminaemia in EUROPEAN JOURNAL OF PEDIATRICS
  • 1992-07 Ornithine carbamoyl transferase deficiency: Findings, models and problems in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-05 PartialN-acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-03 N-Acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication in EUROPEAN JOURNAL OF PEDIATRICS
  • 1990-11 Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1990-06 Proton NMR Observation of Phenylalanine and an Aromatic Metabolite in the Rabbit Brain in Vivo in PEDIATRIC RESEARCH
  • 1990-06 Late-onset form of partial N-acetylglutamate synthetase deficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 1990-05 Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings in EUROPEAN JOURNAL OF PEDIATRICS
  • 1990-03 Guanidino Compound Analysis as a Complementary Diagnostic Parameter for Hyperargininemia: Follow-Up of Guanidino Compound Levels during Therapy in PEDIATRIC RESEARCH
  • 1989-09 3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1989-09 Biotinidase Deficiency: A Cause of Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome). Report of a Case with Lethal Outcome in PEDIATRIC RESEARCH
  • 1989-01 Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration in EUROPEAN JOURNAL OF PEDIATRICS
  • 1988-09 Laryngeal stridor as a leading symptom in a biotinidase-deficient patient in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1988-06 N-acetylglutamate synthetase deficiency, a second patient in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1988-05 DNA analysis of ornithine transcarbamylase deficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 1987-12 β-Ketothiolase deficiency with favourable evolution in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1987-09 Ornithine transcarbamylase variant in a male patient in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1987-09 Hyperornithinemia-Hyperammonemia- Homocitrullinuria Syndrome: Low Creatine Excretion and Effect of Citrulline, Arginine, or Ornithine Supplement in PEDIATRIC RESEARCH
  • 1987-04 Enzymology of human myometrium: Variations related to the hormonal milieu in ARCHIVES OF GYNECOLOGY AND OBSTETRICS
  • 1987-02 The Renal Handling of Carnitine in Patients with Selective Tuhulopathy and with Fanconi Syndrome in PEDIATRIC RESEARCH
  • 1986-12 Atypical non-ketotic hyperglycinaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1986-11 20. In-vitro-Prüfung des plazentaren Transfers von Medikamenten Beispiel: Acyclovir in ARCHIVES OF GYNECOLOGY AND OBSTETRICS
  • 1986-09 Biotinidase deficiency: metabolites in CSF in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1986-04 Rett syndrome revisited: A patient with biotin dependency in EUROPEAN JOURNAL OF PEDIATRICS
  • 1985-07 Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test in EUROPEAN JOURNAL OF PEDIATRICS
  • 1985-05 Activities in the placenta and fetal membranes of enzymes involved in energy metabolism in ARCHIVES OF GYNECOLOGY AND OBSTETRICS
  • 1985-03 Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency in VIRCHOWS ARCHIV A PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
  • 1985-01 Effects of the dopaminergic agonist cianergoline on blood pressure, the renin-angiotensin-aldosterone axis and the sympathetic nervous system in patients with essential hypertension in EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
  • 1984-09 Biotinidase deficiency: Clinical course and biochemical findings in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1984-04 Increase of Tryptophan and 5-Hydroxyindole Acetic Acid in the Brain of Ornithine Carbamoyltransferase Deficient Sparse-Fur Mice in PEDIATRIC RESEARCH
  • 1984 Organic Acids in Urine: Sample Preparation for GC/MS in ORGANIC ACIDURIAS
  • 1984 Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency in ORGANIC ACIDURIAS
  • 1983-03 Liver pathology in transient neonatal hyperammonemia in VIRCHOWS ARCHIV A PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
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