Pierre Guibaud


Ontology type: schema:Person     


Person Info

NAME

Pierre

SURNAME

Guibaud

Publications in SciGraph latest 50 shown

  • 2003-06 Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources in BONE MARROW TRANSPLANTATION
  • 1999-05 Outcome of 21 Children with Hurler Syndrome Transplanted from Related or Unrelated Donors in PEDIATRIC RESEARCH
  • 1998-09 Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia in HUMAN GENETICS
  • 1997-07 Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry 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
  • 1995-01 A new neonatal case ofN-acetylglutamate synthase deficiency treated by carbamylglutamate in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-09 2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-05 Human cultured myoblasts: A model for the diagnosis of mitochondrial diseases in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-05 Farber disease: an ultrastructural study in VIRCHOWS ARCHIV A PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
  • 1991-09 Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-02 Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in HUMAN GENETICS
  • 1991 Effect of Polyethylene Glycol-Modified Adenosine Deaminase (PEG-ADA) Therapy in Two ADA-Deficient Children: Measurement of Erythrocyte Deoxyadenosine Triphosphate as a Useful Tool in PURINE AND PYRIMIDINE METABOLISM IN MAN VII
  • 1990-05 Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1989-04 Prenatal Diagnosis of Cystic Fibrosis: Experience of Two Complementary Methods in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1989-04 Primapterinuria: A New Variant of Atypical Phenylketonuria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1989 Prenatal Diagnosis of Cystic Fibrosis: Experience of Two Complementary Methods in STUDIES IN INHERITED METABOLIC DISEASE
  • 1989 Primapterinuria: A New Variant of Atypical Phenylketonuria in STUDIES IN INHERITED METABOLIC DISEASE
  • 1988-11 New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins in EUROPEAN JOURNAL OF PEDIATRICS
  • 1988-02 Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 1988 Type 3 Gaucher Disease: Clinical and Biological Heterogeneity in LIPID STORAGE DISORDERS
  • 1987-01 Intellectual and school performances in early-treated classical PKU patients in EUROPEAN JOURNAL OF PEDIATRICS
  • 1986-04 Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material in EUROPEAN JOURNAL OF PEDIATRICS
  • 1984-11 HLA and congenital 21-hydroxylase (21-OHD) deficiency : further evidence for a 21-OH locus between DR and GLO in PEDIATRIC RESEARCH
  • 1984-03 Long term outcome of organic acidurias: Survey of 105 French cases (1967–1983) in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1984 Long Term Outcome of Organic Acidurias: Survey of 105 French Cases (1967–1983) in ORGANIC ACIDURIAS
  • 1980-12 SEVERE RICKETS IN A 41 DAY OLD TURKISH BOY DUE TO MATERNAL VITAMIN D DEFICIENCY in PEDIATRIC RESEARCH
  • 1979-06 β-Glucuronidase deficiency: Enzyme studies in an affected family and prenatal diagnosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1978-03 Propionyl-CoA-carboxylase determination: Study of enzyme parameters in cultured skin fibroblasts from enzyme-deficient and normal subjects in JOURNAL OF INHERITED METABOLIC DISEASE
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