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Clinical Chemistry
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September 13, 2005
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease
Adeline Vanderver, Raphael Schiffmann, Margaret Timmons, et al.
Journal of Lipid Research
|
September 2, 2020
Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model
Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S Day, et al.
Drug Design, Development and Therapy
|
June 17, 2016
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy
Ozlem Goker-Alpan, Nicola Longo, Marie McDonald, et al.
Biochimica Et Biophysica Acta
|
July 20, 2010
Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases
Fanny Mochel, Nadège Boildieu, Julie Barritault, et al.
Journal of Neuropathology and Experimental Neurology
|
December 18, 2012
More than hypomyelination in Pol-III disorder
Adeline Vanderver, Davide Tonduti, Genevieve Bernard, et al.
European Journal of Human Genetics : EJHG
|
April 1, 2004
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients
Anne Fogli, Raphael Schiffmann, Lynne Hugendubler, et al.
Human Genetics
|
July 26, 2005
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients
Liraz Kantor, Heather P Harding, David Ron, et al.
The Journal of Pediatrics
|
June 24, 2008
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease
Ozlem Goker-Alpan, Edythe A Wiggs, Michael J Eblan, et al.
BMC Women'S Health
|
October 28, 2004
Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure
Anne Fogli, Fernande Gauthier-Barichard, Raphael Schiffmann, et al.
Orphanet Journal of Rare Diseases
|
April 11, 2025
Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment
Raphael Schiffmann, James Turnbull, Robert Krupnick, et al.
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of 23
Search research articles
Search
Showing results (81-90 of 225) with videos related to
Sort By:
Page
of 23
Clinical Chemistry
|
September 13, 2005
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease
Adeline Vanderver, Raphael Schiffmann, Margaret Timmons, et al.
Journal of Lipid Research
|
September 2, 2020
Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model
Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S Day, et al.
Drug Design, Development and Therapy
|
June 17, 2016
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy
Ozlem Goker-Alpan, Nicola Longo, Marie McDonald, et al.
Biochimica Et Biophysica Acta
|
July 20, 2010
Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases
Fanny Mochel, Nadège Boildieu, Julie Barritault, et al.
Journal of Neuropathology and Experimental Neurology
|
December 18, 2012
More than hypomyelination in Pol-III disorder
Adeline Vanderver, Davide Tonduti, Genevieve Bernard, et al.
European Journal of Human Genetics : EJHG
|
April 1, 2004
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients
Anne Fogli, Raphael Schiffmann, Lynne Hugendubler, et al.
Human Genetics
|
July 26, 2005
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients
Liraz Kantor, Heather P Harding, David Ron, et al.
The Journal of Pediatrics
|
June 24, 2008
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease
Ozlem Goker-Alpan, Edythe A Wiggs, Michael J Eblan, et al.
BMC Women'S Health
|
October 28, 2004
Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure
Anne Fogli, Fernande Gauthier-Barichard, Raphael Schiffmann, et al.
Orphanet Journal of Rare Diseases
|
April 11, 2025
Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment
Raphael Schiffmann, James Turnbull, Robert Krupnick, et al.
Page
of 23