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Vassili Valayannopoulos

Showing results (1-10 of 104) with videos related to

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Handbook of Clinical Neurology|April 30, 2013
Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expressionVassili Valayannopoulos
Rheumatology (Oxford, England)|January 3, 2012
Therapy for the mucopolysaccharidosesVassili Valayannopoulos, Frits A Wijburg
Handbook of Clinical Neurology|April 30, 2013
Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseasesVassili Valayannopoulos, Bwee Tien Poll-The
Orphanet Journal of Rare Diseases|April 14, 2010
Mucopolysaccharidosis VIVassili Valayannopoulos, Helen Nicely, Paul Harmatz, et al.
Molecular Genetics and Metabolism|November 24, 2016
Lysosomal acid lipase deficiency: Expanding differential diagnosisVassili Valayannopoulos, Eugen Mengel, Anais Brassier, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational studyNathalie Guffon, Bénédicte Heron, Brigitte Chabrol, et al.
Acta Neurochirurgica|August 7, 2013
Mucopolysaccharidosis type I and craniosynostosisJawad Ziyadeh, Martine Le Merrer, Matthieu Robert, et al.
Journal of Medicinal Chemistry|May 24, 2013
Synthesis and biological evaluation of new creatine fatty esters revealed dodecyl creatine ester as a promising drug candidate for the treatment of the creatine transporter deficiencyAlexandra Trotier-Faurion, Sophie Dézard, Frédéric Taran, et al.
Human Genetics|September 7, 2023
The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature reviewCharles L Ford, William J Riggs, Tera Quigley, et al.
Prenatal Diagnosis|April 30, 2008
Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosisMirjam M C Wamelink, Eduard A Struys, Vassili Valayannopoulos, et al.
Pageof 11

Showing results (1-10 of 104) with videos related to

Sort By:
Pageof 11
Handbook of Clinical Neurology|April 30, 2013
Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expressionVassili Valayannopoulos
Rheumatology (Oxford, England)|January 3, 2012
Therapy for the mucopolysaccharidosesVassili Valayannopoulos, Frits A Wijburg
Handbook of Clinical Neurology|April 30, 2013
Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseasesVassili Valayannopoulos, Bwee Tien Poll-The
Orphanet Journal of Rare Diseases|April 14, 2010
Mucopolysaccharidosis VIVassili Valayannopoulos, Helen Nicely, Paul Harmatz, et al.
Molecular Genetics and Metabolism|November 24, 2016
Lysosomal acid lipase deficiency: Expanding differential diagnosisVassili Valayannopoulos, Eugen Mengel, Anais Brassier, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational studyNathalie Guffon, Bénédicte Heron, Brigitte Chabrol, et al.
Acta Neurochirurgica|August 7, 2013
Mucopolysaccharidosis type I and craniosynostosisJawad Ziyadeh, Martine Le Merrer, Matthieu Robert, et al.
Journal of Medicinal Chemistry|May 24, 2013
Synthesis and biological evaluation of new creatine fatty esters revealed dodecyl creatine ester as a promising drug candidate for the treatment of the creatine transporter deficiencyAlexandra Trotier-Faurion, Sophie Dézard, Frédéric Taran, et al.
Human Genetics|September 7, 2023
The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature reviewCharles L Ford, William J Riggs, Tera Quigley, et al.
Prenatal Diagnosis|April 30, 2008
Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosisMirjam M C Wamelink, Eduard A Struys, Vassili Valayannopoulos, et al.
Pageof 11