Claude Dorche


Ontology type: schema:Person     


Person Info

NAME

Claude

SURNAME

Dorche

Publications in SciGraph latest 50 shown

  • 2005-12 False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2005-10 Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase in HUMAN GENETICS
  • 2004-03 CDG IIx with unusual phenotype in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2003-06 Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources in BONE MARROW TRANSPLANTATION
  • 2002-04 Antenatal and Neonatal Screening [Second Edition] in HUMAN GENETICS
  • 2000-02 Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1998-12 Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A in HUMAN GENETICS
  • 1998-09 Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency in NATURE GENETICS
  • 1996-09 Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995-03 Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-08 Molybdenum cofactor deficiency in two siblings: Diagnostic difficulties in EUROPEAN JOURNAL OF PEDIATRICS
  • 1991-05 5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-01 Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion in EUROPEAN JOURNAL OF PEDIATRICS
  • 1988-12 A new case of isolated sulphite oxidase deficiency with rapid fatal outcome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1988-02 Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 1986-06 Galactose-1-phosphate-uridyl transferase activity in chorionic villi: A first trimester prenatal diagnosis of galactosaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1986-03 Neonatal screening for congenital adrenal hyperplasia: a pilot study in France in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1986 Neonatal Screening for Congenital Adrenal Hyperplasia: a Pilot Study in France in PRACTICAL DEVELOPMENTS IN INHERITED METABOLIC DISEASE: DNA ANALYSIS, PHENYLKETONURIA AND SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA
  • 1986 Galactose-1-Phosphate-Uridyl Transferase Activity in Chorionic Villi: A First Trimester Prenatal Diagnosis of Galactosaemia in PRACTICAL DEVELOPMENTS IN INHERITED METABOLIC DISEASE: DNA ANALYSIS, PHENYLKETONURIA AND SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA
  • Affiliations

  • Hôpital Debrousse (current)
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