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BMC Pregnancy and Childbirth
|
January 3, 2025
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report
Maxime Agranier, Florence Demurger, Christele Dubourg, et al.
Journal of Inherited Metabolic Disease
|
December 1, 2012
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review
Rabab Debs, Roseline Froissart, Patrick Aubourg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 13, 2017
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type
Oriane Mercati, Samia Pichard, Marie Ouachée, et al.
Diagnostic Pathology
|
June 7, 2011
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, et al.
Genes
|
December 23, 2022
Novel Intronic Mutation in <i>VMA21</i> Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report
Antoine Pegat, Nathalie Streichenberger, Nicolas Lacoste, et al.
Journal of Pediatric Hematology/Oncology
|
March 15, 2019
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs
Manel Naifar, Faten Kallel, Faten HadjKacem, et al.
Journal of Inherited Metabolic Disease
|
November 28, 2023
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series
Charles R Lefèvre, Sophie Collardeau-Frachon, Nathalie Streichenberger, et al.
International Journal of Molecular Sciences
|
February 21, 2017
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, 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.
Brain & Development
|
March 24, 2010
A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
Ichraf Kraoua, Frédéric Sedel, Catherine Caillaud, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 62) with videos related to
Sort By:
Page
of 7
BMC Pregnancy and Childbirth
|
January 3, 2025
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report
Maxime Agranier, Florence Demurger, Christele Dubourg, et al.
Journal of Inherited Metabolic Disease
|
December 1, 2012
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review
Rabab Debs, Roseline Froissart, Patrick Aubourg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 13, 2017
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type
Oriane Mercati, Samia Pichard, Marie Ouachée, et al.
Diagnostic Pathology
|
June 7, 2011
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, et al.
Genes
|
December 23, 2022
Novel Intronic Mutation in <i>VMA21</i> Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report
Antoine Pegat, Nathalie Streichenberger, Nicolas Lacoste, et al.
Journal of Pediatric Hematology/Oncology
|
March 15, 2019
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs
Manel Naifar, Faten Kallel, Faten HadjKacem, et al.
Journal of Inherited Metabolic Disease
|
November 28, 2023
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series
Charles R Lefèvre, Sophie Collardeau-Frachon, Nathalie Streichenberger, et al.
International Journal of Molecular Sciences
|
February 21, 2017
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, 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.
Brain & Development
|
March 24, 2010
A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
Ichraf Kraoua, Frédéric Sedel, Catherine Caillaud, et al.
Page
of 7