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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 19, 2012
Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques
Sarah P Young, Monique Piraud, Jennifer L Goldstein, et al.
Skeletal Muscle
|
January 20, 2012
TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism
Joffrey De Larichaudy, Alessandra Zufferli, Filippo Serra, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2020
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case
Francis Ramond, Marlène Rio, Bénédicte Héron, et al.
Human Gene Therapy
|
May 31, 2012
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice
Françoise Piguet, Dolan Sondhi, Monique Piraud, et al.
Plos One
|
July 28, 2017
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
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, et al.
Molecular Genetics and Metabolism
|
August 12, 2011
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives
Arnold J Reuser, Frans W Verheijen, Deeksha Bali, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 6, 2017
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling
Abdellah Tebani, Isabelle Schmitz-Afonso, Lenaig Abily-Donval, et al.
Plos Genetics
|
November 14, 2014
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia
Asmaa Mamoune, Michel Bahuau, Yamina Hamel, et al.
Neuromuscular Disorders : NMD
|
July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity
Kristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
Neurology
|
July 25, 2019
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
Louis Cousyn, Bruno Law-Ye, Nadya Pyatigorskaya, et al.
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Search research articles
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Showing results (21-30 of 32) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
January 19, 2012
Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques
Sarah P Young, Monique Piraud, Jennifer L Goldstein, et al.
Skeletal Muscle
|
January 20, 2012
TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism
Joffrey De Larichaudy, Alessandra Zufferli, Filippo Serra, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2020
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case
Francis Ramond, Marlène Rio, Bénédicte Héron, et al.
Human Gene Therapy
|
May 31, 2012
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice
Françoise Piguet, Dolan Sondhi, Monique Piraud, et al.
Plos One
|
July 28, 2017
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
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, et al.
Molecular Genetics and Metabolism
|
August 12, 2011
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives
Arnold J Reuser, Frans W Verheijen, Deeksha Bali, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 6, 2017
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling
Abdellah Tebani, Isabelle Schmitz-Afonso, Lenaig Abily-Donval, et al.
Plos Genetics
|
November 14, 2014
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia
Asmaa Mamoune, Michel Bahuau, Yamina Hamel, et al.
Neuromuscular Disorders : NMD
|
July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity
Kristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
Neurology
|
July 25, 2019
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
Louis Cousyn, Bruno Law-Ye, Nadya Pyatigorskaya, et al.
Page
of 4