Search research articles
Contact Us
Filters
Showing results (51-60 of 116) with videos related to
Page
of 12
Sort By:
JIMD Reports
|
November 6, 2013
Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome
Kathleen A Delaney, Kyle R Rudser, Brianna D Yund, et al.
Molecular Genetics and Metabolism
|
December 26, 2013
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome
Alia Ahmed, Chester B Whitley, Renee Cooksley, et al.
JIMD Reports
|
September 10, 2019
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population
Christine Haller, Wenjie Song, Tricia Cimms, et al.
Molecular Genetics and Metabolism Reports
|
January 26, 2017
Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II
Lynda E Polgreen, Alicia Kunin-Batson, Kyle Rudser, et al.
Molecular Genetics and Metabolism Reports
|
July 16, 2019
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation
Alia Ahmed, Li Ou, Kyle Rudser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2025
Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase program
Sofia Shrestha, Alicia L Zagel, Nishitha R Pillai, et al.
The Journal of Gene Medicine
|
January 8, 2003
Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome
Youngtae Hong, Seung Shin Yu, Jong-Mook Kim, et al.
Molecular Genetics and Metabolism
|
November 25, 2011
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients
Jeanine R Jarnes Utz, Cindy Pham Lorentz, Dorothy Markowitz, et al.
The Journal of Pediatrics
|
April 18, 2018
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
Chester B Whitley, Maureen Cleary, Karl Eugen Mengel, et al.
Molecular Genetics and Metabolism
|
February 14, 2016
Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI
Lynda E Polgreen, Richard K Vehe, Kyle Rudser, et al.
Page
of 12
Search research articles
Search
Showing results (51-60 of 116) with videos related to
Sort By:
Page
of 12
JIMD Reports
|
November 6, 2013
Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome
Kathleen A Delaney, Kyle R Rudser, Brianna D Yund, et al.
Molecular Genetics and Metabolism
|
December 26, 2013
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome
Alia Ahmed, Chester B Whitley, Renee Cooksley, et al.
JIMD Reports
|
September 10, 2019
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population
Christine Haller, Wenjie Song, Tricia Cimms, et al.
Molecular Genetics and Metabolism Reports
|
January 26, 2017
Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II
Lynda E Polgreen, Alicia Kunin-Batson, Kyle Rudser, et al.
Molecular Genetics and Metabolism Reports
|
July 16, 2019
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation
Alia Ahmed, Li Ou, Kyle Rudser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2025
Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase program
Sofia Shrestha, Alicia L Zagel, Nishitha R Pillai, et al.
The Journal of Gene Medicine
|
January 8, 2003
Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome
Youngtae Hong, Seung Shin Yu, Jong-Mook Kim, et al.
Molecular Genetics and Metabolism
|
November 25, 2011
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients
Jeanine R Jarnes Utz, Cindy Pham Lorentz, Dorothy Markowitz, et al.
The Journal of Pediatrics
|
April 18, 2018
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
Chester B Whitley, Maureen Cleary, Karl Eugen Mengel, et al.
Molecular Genetics and Metabolism
|
February 14, 2016
Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI
Lynda E Polgreen, Richard K Vehe, Kyle Rudser, et al.
Page
of 12