Helene O. De Baulny
Paris, France
Last Updated: 09/26/2026
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Found 10 publications
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
Journal: Orphanet journal of rare diseases
Published: July 01, 2022
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
Journal: Pediatric research
Published: June 26, 2018
Long-term liver disease in methylmalonic and propionic acidemias.
Journal: Molecular genetics and metabolism
Published: September 19, 2017
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Journal: Journal of inherited metabolic disease
Published: June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
Journal: Journal of inherited metabolic disease
Published: June 17, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Journal: Journal of inherited metabolic disease
Published: August 28, 2014
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
Journal: Journal of inherited metabolic disease
Published: August 28, 2014
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
Journal: Journal of the neurological sciences
Published: July 16, 2013
Recommendations for the management of tyrosinaemia type 1.
Journal: Orphanet journal of rare diseases
Published: October 15, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026