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Molecular Genetics and Metabolism
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January 6, 2015
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses
Jeanine R Jarnes Utz, Thomas Crutcher, Joseph Schneider, et al.
The Journal of Pediatrics
|
March 4, 2014
Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA
Robin K Rumsey, Kyle Rudser, Kathleen Delaney, et al.
Molecular Genetics and Metabolism
|
December 26, 2013
Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome
Lynda E Polgreen, William Thomas, Paul J Orchard, et al.
Molecular Genetics and Metabolism Reports
|
April 27, 2016
Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI
Alia Ahmed, Elsa Shapiro, Kyle Rudser, et al.
Molecular Genetics and Metabolism
|
August 21, 2025
Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC)
Nishitha R Pillai, Sofia Shrestha, Alia Ahmed, et al.
Molecular Genetics and Metabolism Reports
|
January 13, 2025
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study
Jeanine R Jarnes, Nishitha R Pillai, Alia Ahmed, et al.
Molecular Genetics and Metabolism
|
January 21, 2018
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study
Igor Nestrasil, Alia Ahmed, Josephine M Utz, et al.
Molecular Genetics and Metabolism
|
February 27, 2018
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease
Paul Harmatz, Chester B Whitley, Raymond Y Wang, et al.
Molecular Genetics and Metabolism Reports
|
September 26, 2022
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system
Sarah Kim, Michael J Przybilla, Chester B Whitley, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|
February 11, 2014
Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review
Elizabeth Braunlin, Paul J Orchard, Chester B Whitley, et al.
Page
of 12
Search research articles
Search
Showing results (31-40 of 116) with videos related to
Sort By:
Page
of 12
Molecular Genetics and Metabolism
|
January 6, 2015
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses
Jeanine R Jarnes Utz, Thomas Crutcher, Joseph Schneider, et al.
The Journal of Pediatrics
|
March 4, 2014
Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA
Robin K Rumsey, Kyle Rudser, Kathleen Delaney, et al.
Molecular Genetics and Metabolism
|
December 26, 2013
Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome
Lynda E Polgreen, William Thomas, Paul J Orchard, et al.
Molecular Genetics and Metabolism Reports
|
April 27, 2016
Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI
Alia Ahmed, Elsa Shapiro, Kyle Rudser, et al.
Molecular Genetics and Metabolism
|
August 21, 2025
Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC)
Nishitha R Pillai, Sofia Shrestha, Alia Ahmed, et al.
Molecular Genetics and Metabolism Reports
|
January 13, 2025
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study
Jeanine R Jarnes, Nishitha R Pillai, Alia Ahmed, et al.
Molecular Genetics and Metabolism
|
January 21, 2018
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study
Igor Nestrasil, Alia Ahmed, Josephine M Utz, et al.
Molecular Genetics and Metabolism
|
February 27, 2018
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease
Paul Harmatz, Chester B Whitley, Raymond Y Wang, et al.
Molecular Genetics and Metabolism Reports
|
September 26, 2022
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system
Sarah Kim, Michael J Przybilla, Chester B Whitley, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|
February 11, 2014
Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review
Elizabeth Braunlin, Paul J Orchard, Chester B Whitley, et al.
Page
of 12