Search research articles
Contact Us
Filters
Showing results (1-10 of 59) with videos related to
Page
of 6
Sort By:
European Journal of Pediatrics
|
February 12, 2019
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion
Nathalie Guffon, Pierre Journeau, Anaïs Brassier, et al.
Paediatric Drugs
|
June 26, 2014
Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) survey of patients in france treated with Pheburane(®) (Sodium Phenylbutyrate) taste-masked granules
Yves Kibleur, Dries Dobbelaere, Magalie Barth, et al.
Pediatric Neurology
|
June 19, 2012
Unusual muscular injury in an infant with severe H1N1 infection
Romain Guedj, Isabelle Desguerre, Anaïs Brassier, et al.
Orphanet Journal of Rare Diseases
|
November 1, 2025
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, et al.
Journal of Clinical Medicine
|
February 25, 2022
Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France
Wladimir Mauhin, Raphaël Borie, Florence Dalbies, et al.
Molecular Genetics and Metabolism
|
June 12, 2019
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
Annalisa Madeo, Maja Di Rocco, Anaïs Brassier, et al.
Journal of Inherited Metabolic Disease
|
January 21, 2015
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients
Elise Lebigot, Anaïs Brassier, Mokhtar Zater, et al.
Orphanet Journal of Rare Diseases
|
September 20, 2019
Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: <sup>1</sup>H NMR spectroscopy and genetic testing
Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, et al.
Molecular Genetics and Metabolism
|
June 20, 2026
Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study
Vincent Lavoie, Samia Pichard, Juliette Bouchereau, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2024
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study
Quentin Salardaine, Natalia Shor, Nicolas Villain, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 59) with videos related to
Sort By:
Page
of 6
European Journal of Pediatrics
|
February 12, 2019
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion
Nathalie Guffon, Pierre Journeau, Anaïs Brassier, et al.
Paediatric Drugs
|
June 26, 2014
Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) survey of patients in france treated with Pheburane(®) (Sodium Phenylbutyrate) taste-masked granules
Yves Kibleur, Dries Dobbelaere, Magalie Barth, et al.
Pediatric Neurology
|
June 19, 2012
Unusual muscular injury in an infant with severe H1N1 infection
Romain Guedj, Isabelle Desguerre, Anaïs Brassier, et al.
Orphanet Journal of Rare Diseases
|
November 1, 2025
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, et al.
Journal of Clinical Medicine
|
February 25, 2022
Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France
Wladimir Mauhin, Raphaël Borie, Florence Dalbies, et al.
Molecular Genetics and Metabolism
|
June 12, 2019
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
Annalisa Madeo, Maja Di Rocco, Anaïs Brassier, et al.
Journal of Inherited Metabolic Disease
|
January 21, 2015
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients
Elise Lebigot, Anaïs Brassier, Mokhtar Zater, et al.
Orphanet Journal of Rare Diseases
|
September 20, 2019
Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: <sup>1</sup>H NMR spectroscopy and genetic testing
Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, et al.
Molecular Genetics and Metabolism
|
June 20, 2026
Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study
Vincent Lavoie, Samia Pichard, Juliette Bouchereau, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2024
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study
Quentin Salardaine, Natalia Shor, Nicolas Villain, et al.
Page
of 6