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List of works by Hélène Ogier de Baulny

A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis

scientific article published on 11 October 2013

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

scientific article

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

scientific article

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

scientific article

Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

scientific article

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data

scientific article published on 27 June 2013

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

scientific article published on 3 October 2012

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

scientific article

D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?

scientific article

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?

scientific article published on 20 July 2012

Isolated remethylation disorders: do our treatments benefit patients?

scientific article published on 21 May 2010

Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations

scientific article published in January 2002

Leigh's disease due to a new mutation in the PDHX gene

scientific article

Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder ⬇️

scientific article published on February 17, 2012

Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism

scientific article

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

scientific article

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

scientific article

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects ⬇️

scientific article published on May 24, 2011

Neuropsychiatric Disturbances in Presumed Late-Onset Cobalamin C Disease ⬇️

scientific article published on October 1, 2003

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

scientific article published on 4 May 2011

Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency

scientific article published on 8 March 2006

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

scientific article published on February 2016

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

scientific article published on 2 May 2016

Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

scientific article

Should transcobalamin deficiency be treated aggressively?

scientific article published on 30 March 2010

The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation process

scientific article

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 15 April 2015

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

scientific article published on 10 March 2016

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