Search research articles
Contact Us
Filters
Showing results (21-30 of 53) with videos related to
Page
of 6
Sort By:
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 6, 2012
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review
Ignacio Rubio-Agusti, Maja Kojovic, Mark J Edwards, et al.
Journal of Proteome Research
|
March 8, 2013
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients
Victoria Manwaring, Wendy E Heywood, Robert Clayton, et al.
Journal of Inherited Metabolic Disease
|
January 7, 2018
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
Melissa P Wasserstein, George A Diaz, Robin H Lachmann, et al.
Orphanet Journal of Rare Diseases
|
February 1, 2022
Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study
Philip J Hennis, Elaine Murphy, Rick I Meijer, et al.
JIMD Reports
|
March 13, 2015
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy
Johann Hofereiter, Matthew D Smith, Jai Seth, et al.
Molecular Genetics and Metabolism
|
July 5, 2020
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment
Beth L Thurberg, George A Diaz, Robin H Lachmann, et al.
The American Journal of Cardiology
|
October 9, 2012
Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease
Caroline J Coats, Valentina Parisi, Monica Ramos, et al.
Neuromuscular Disorders : NMD
|
February 10, 2018
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)
Mahalekshmi Desikan, Renata Siciliani Scalco, Andreea Manole, et al.
Journal of Inherited Metabolic Disease
|
February 21, 2018
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Douglas Chesher, Michael Oddy, Ulpee Darbar, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
September 24, 2015
Urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick type C1 disease: One- and two-dimensional solution-state (1)H NMR studies
Fay Probert, Victor Ruiz-Rodado, Xiaoyu Zhang, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 53) with videos related to
Sort By:
Page
of 6
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 6, 2012
Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review
Ignacio Rubio-Agusti, Maja Kojovic, Mark J Edwards, et al.
Journal of Proteome Research
|
March 8, 2013
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients
Victoria Manwaring, Wendy E Heywood, Robert Clayton, et al.
Journal of Inherited Metabolic Disease
|
January 7, 2018
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
Melissa P Wasserstein, George A Diaz, Robin H Lachmann, et al.
Orphanet Journal of Rare Diseases
|
February 1, 2022
Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study
Philip J Hennis, Elaine Murphy, Rick I Meijer, et al.
JIMD Reports
|
March 13, 2015
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy
Johann Hofereiter, Matthew D Smith, Jai Seth, et al.
Molecular Genetics and Metabolism
|
July 5, 2020
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment
Beth L Thurberg, George A Diaz, Robin H Lachmann, et al.
The American Journal of Cardiology
|
October 9, 2012
Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease
Caroline J Coats, Valentina Parisi, Monica Ramos, et al.
Neuromuscular Disorders : NMD
|
February 10, 2018
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)
Mahalekshmi Desikan, Renata Siciliani Scalco, Andreea Manole, et al.
Journal of Inherited Metabolic Disease
|
February 21, 2018
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Douglas Chesher, Michael Oddy, Ulpee Darbar, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
September 24, 2015
Urinary excretion and metabolism of miglustat and valproate in patients with Niemann-Pick type C1 disease: One- and two-dimensional solution-state (1)H NMR studies
Fay Probert, Victor Ruiz-Rodado, Xiaoyu Zhang, et al.
Page
of 6