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Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 31, 2012
An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper
Christiane Auray-Blais, Pamela Lavoie, Haoyue Zhang, et al.
Molecular Genetics and Metabolism
|
July 15, 2009
Substrate reduction therapy in juvenile GM2 gangliosidosis
Gustavo H B Maegawa, Brenda L Banwell, Susan Blaser, et al.
The West Indian Medical Journal
|
March 2, 2011
Sociodemographics and clinical presentation of HIV in Jamaica over 20 years. A comparative analysis of surveillance data
J Duncan, Y Grant, T R Clarke, et al.
Fetal Diagnosis and Therapy
|
March 27, 2009
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence
M Rohrbach, D Chitayat, G Maegawa, et al.
The Journal of Pediatrics
|
January 26, 2010
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease
Raphael Schiffmann, Rick A Martin, Tyler Reimschisel, et al.
Molecular Genetics and Metabolism
|
May 19, 2009
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis
Gustavo H B Maegawa, Paul L M van Giersbergen, Sandra Yang, et al.
Journal of the American Society of Nephrology : JASN
|
April 10, 2009
Agalsidase alfa and kidney dysfunction in Fabry disease
Michael West, Kathy Nicholls, Atul Mehta, et al.
Neuroradiology
|
August 13, 2016
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis
A Al-Maawali, G Yoon, A S Feigenbaum, et al.
American Journal of Human Genetics
|
September 26, 2002
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
Ken Inoue, Hitoshi Osaka, Virginia C Thurston, et al.
Human Mutation
|
September 27, 2002
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
Nancy Braverman, Li Chen, Paul Lin, et al.
Page
of 12
Search research articles
Search
Showing results (91-100 of 119) with videos related to
Sort By:
Page
of 12
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 31, 2012
An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper
Christiane Auray-Blais, Pamela Lavoie, Haoyue Zhang, et al.
Molecular Genetics and Metabolism
|
July 15, 2009
Substrate reduction therapy in juvenile GM2 gangliosidosis
Gustavo H B Maegawa, Brenda L Banwell, Susan Blaser, et al.
The West Indian Medical Journal
|
March 2, 2011
Sociodemographics and clinical presentation of HIV in Jamaica over 20 years. A comparative analysis of surveillance data
J Duncan, Y Grant, T R Clarke, et al.
Fetal Diagnosis and Therapy
|
March 27, 2009
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence
M Rohrbach, D Chitayat, G Maegawa, et al.
The Journal of Pediatrics
|
January 26, 2010
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease
Raphael Schiffmann, Rick A Martin, Tyler Reimschisel, et al.
Molecular Genetics and Metabolism
|
May 19, 2009
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis
Gustavo H B Maegawa, Paul L M van Giersbergen, Sandra Yang, et al.
Journal of the American Society of Nephrology : JASN
|
April 10, 2009
Agalsidase alfa and kidney dysfunction in Fabry disease
Michael West, Kathy Nicholls, Atul Mehta, et al.
Neuroradiology
|
August 13, 2016
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis
A Al-Maawali, G Yoon, A S Feigenbaum, et al.
American Journal of Human Genetics
|
September 26, 2002
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
Ken Inoue, Hitoshi Osaka, Virginia C Thurston, et al.
Human Mutation
|
September 27, 2002
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
Nancy Braverman, Li Chen, Paul Lin, et al.
Page
of 12