Helene Baulny-De
Paris, France
Last Updated: 09/26/2026
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Found 18 publications
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: May 29, 2020
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
Journal: Journal of inherited metabolic disease
Published: September 27, 2019
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients.
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients.
Journal: Molecular genetics and metabolism reports
Published: July 19, 2019
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 11, 2017
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Journal: Journal of inherited metabolic disease
Published: October 10, 2016
Neurocognitive profiles in MSUD school-age patients.
Journal: Journal of inherited metabolic disease
Published: October 09, 2016
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
Journal: The New England journal of medicine
Published: March 03, 2016
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
Journal: Molecular genetics and metabolism reports
Published: January 13, 2016
Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
Journal: Journal of hepatology
Published: August 12, 2015
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.
Journal: JIMD reports
Published: June 17, 2015
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.
Journal: European journal of medical genetics
Published: September 15, 2014
Last Updated: 09/26/2026