Marie Odile Rolland


Ontology type: schema:Person     


Person Info

NAME

Marie Odile

SURNAME

Rolland

Publications in SciGraph latest 50 shown

  • 2012 Nonketotic Hyperglycinaemia (Glycine Encephalopathy) in INBORN METABOLIC DISEASES
  • 2010-03 Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome in KIDNEY INTERNATIONAL
  • 2009-10 Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1 in KIDNEY INTERNATIONAL
  • 2008-02 NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-08 Primary hyperoxaluria type 1: still challenging! in PEDIATRIC NEPHROLOGY
  • 2006-02 Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006 Nonketotic Hyperglycinemia (Glycine Encephalopathy) in INBORN METABOLIC DISEASES
  • 2006 Primary Hyperoxalurias in INBORN METABOLIC DISEASES
  • 2005-12 First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 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
  • 2004-07 Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency: T2-Deficient Patients with “Mild” Mutation(s) Were Previously Misinterpreted as Normal by the Coupled Assay with Tiglyl-CoA in PEDIATRIC RESEARCH
  • 2000-11 A new case of 2-methylacetoacetyl-CoA thiolase deficiency? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2000-02 Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2000 Primary Hyperoxalurias in INBORN METABOLIC DISEASES
  • 1999-11 Combined liver-kidney transplantation in primary hyperoxaluria type 1 in EUROPEAN JOURNAL OF PEDIATRICS
  • 1998-09 Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia in HUMAN GENETICS
  • 1998-08 Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1998-04 A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia in HUMAN GENETICS
  • 1996-05 Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-11 Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1994-01 Resistance to erucic acid as a selectable marker for peroxisomal activity: Isolation of revertants of an infantile Refsum disease cell line in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-09 Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-09 Magnetic resonance imaging in juvenile Canavan disease in EUROPEAN JOURNAL OF PEDIATRICS
  • 1993-05 First-trimester prenatal diagnosis of Canavan disease in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-01 3-Hydroxy-3-methylglutaric aciduria in Portuguese population in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-08 Prenatal diagnosis of Canavan disease in EUROPEAN JOURNAL OF PEDIATRICS
  • 1991-09 Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-07 The place of fetal liver transplantation in the treatment of inborn errors of metabolism in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-03 Canavan disease: findings in four new cases in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1990-08 Comparison of Red Cell Transfusion and Polyethylene Glycol-Modified Adenosine Deaminase Therapy in an Adenosine Deaminase-Deficient Child: Measurement of Erythrocyte Deoxyadenosine Triphosphate as a Useful Tool in PEDIATRIC RESEARCH
  • 1990-08 Comparison of Red Cell Transfusion and Polyethylene Glycol-Modified Adenosine Deaminase Therapy in an Adenosine Deaminase-Deficient Child in PEDIATRIC RESEARCH
  • 1990-05 Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1990-03 Effect of red cell transfusions on clinical, immunological and biochemical parameters of a child with adenosine deaminase deficiency 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
  • 1986-06 A new case of hyperlysinaemia with saccharopinuria in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1986-04 Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material in EUROPEAN JOURNAL OF PEDIATRICS
  • 1986 A New Case of Hyperlysinaemia with Saccharopinuria 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
  • 1982-03 GC-MS identification of urinary succinylacetone in two cases of hereditary tyrosinaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1981-12 3-Hydroxy-3-methylglutaric aciduria combined with 3-methylglutaconic aciduria: A new case in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1978-09 Erythrocyte ghost (Na+ + K+) ATPase activity in mice with hereditary muscular dystrophy (strain C57 BL 6 J/dy) in JOURNAL OF NEUROLOGY
  • 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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