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Alain Fouilhoux

HCL Technologies

16

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143

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Author response for "Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients"

2019
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Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein

2017 Biochimica et Biophysica Acta
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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

2017 PLOS ONE
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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

2017 Journal of Inherited Metabolic Disease
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Evaluation of Miglustat Treatment in Patients with Type III Mucopolysaccharidosis: A Randomized, Double-Blind, Placebo-Controlled Study

2011 The Journal of Pediatrics
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Actualités des traitements enzymatiques substitutifs dans les mucopolysaccharidoses

2008
- Alain Fouilhoux
- Nathalie Guffon
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Relation entre les manifestations ophtalmologiques et les atteintes générales chez dix patients atteints de la Maladie de Fabry.

2008 Journal Francais D Ophtalmologie
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SFP-P173 – Génétique – Pratiques de soins en France de la maladie de Fabry

2008 Archives De Pediatrie
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Relation entre les manifestations ophtalmologiques et les atteintes générales chez dix patients atteints de la maladie de Fabry

2005 Journal Francais D Ophtalmologie
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