Hélène Ogier De Baulny


Ontology type: schema:Person     


Person Info

NAME

Hélène Ogier

SURNAME

De Baulny

Publications in SciGraph latest 50 shown

  • 2018-11-12 Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient in PEDIATRIC RESEARCH
  • 2017-05 Neurocognitive profiles in MSUD school-age patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2017-05 Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2016 Branched-chain Organic Acidurias /Acidaemias in INBORN METABOLIC DISEASES
  • 2016 Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants in JIMD REPORTS, VOLUME 29
  • 2015-12 Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-11 Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-11 Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-11 The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2015-11 The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2014-12 Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-01 Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2013-12 Recommendations for the management of tyrosinaemia type 1 in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-09 Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-09 Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012 Branched-chain Organic Acidurias/Acidaemias in INBORN METABOLIC DISEASES
  • 2012 Emergency Treatments in INBORN METABOLIC DISEASES
  • 2011-12 Erratum to: Isolated remethylation disorders: do our treatments benefit patients? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-08 Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-02 Isolated remethylation disorders: do our treatments benefit patients? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2010-12 Maternal and fetal tyrosinemia type I in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2010-06 Should transcobalamin deficiency be treated aggressively? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-12 Mitochondria and diabetes mellitus: untangling a conflictive relationship? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2009-12 Early-onset hyperargininaemia: A severe disorder? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2008-02 NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006-07 Randomised controlled trial of essential fatty acid supplementation in phenylketonuria in EUROPEAN JOURNAL OF CLINICAL NUTRITION
  • 2006-06 Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 2006-06 A New Intronic Mutation in the DPM1 Gene Is Associated With a Milder Form of CDG Ie in Two French Siblings in PEDIATRIC RESEARCH
  • 2006-04 Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2006 Branched-Chain Organic Acidurias/Acidemias in INBORN METABOLIC DISEASES
  • 2006 Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism in PHYSICIAN’S GUIDE TO THE TREATMENT AND FOLLOW-UP OF METABOLIC DISEASES
  • 2006 Emergency Treatments in INBORN METABOLIC DISEASES
  • 2005-05 Methylmalonic and propionic acidaemias: Management and outcome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2004-09 Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2002-05 D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion? in HUMAN GENETICS
  • 2001-09 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure in NATURE GENETICS
  • 2001-08 N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-07 Functional characterization of novel mutations in the human cytochrome b gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000 Clinical Approach to Inherited Metabolic Diseases in INBORN METABOLIC DISEASES
  • 2000 Emergency Treatments in INBORN METABOLIC DISEASES
  • 2000 Branched-Chain Organic Acidurias in INBORN METABOLIC DISEASES
  • 1999-04 Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1998-07 Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria in EUROPEAN JOURNAL OF PEDIATRICS
  • 1998-03 Remethylation defects: guidelines for clinical diagnosis and treatment in EUROPEAN JOURNAL OF PEDIATRICS
  • 1996-07 Morphological studies of skeletal muscle in lactic acidosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1996-05 Clinical and molecular heterogeneity of cytochromec oxidase deficiency in the newborn in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995-01 Immunohistochemical analysis of muscle cytochromec oxidase deficiency in children in HISTOCHEMISTRY AND CELL BIOLOGY
  • 1995 Branched-Chain Organic Acidurias in INBORN METABOLIC DISEASES
  • 1995 Clinical Approach to Inherited Metabolic Diseases in INBORN METABOLIC DISEASES
  • 1995 Emergency Treatments in INBORN METABOLIC DISEASES
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