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Molecular Genetics and Metabolism
|
January 7, 2014
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene
Deeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
American Journal of Obstetrics and Gynecology
|
February 5, 2008
Pregnancies in glycogen storage disease type Ia
Daniëlle H J Martens, Jan Peter Rake, Martin Schwarz, et al.
Hepatology Communications
|
November 9, 2019
Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI
Lane H Wilson, Jun-Ho Cho, Ana Estrella, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2018
Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia
Young Mok Lee, Thomas J Conlon, Andrew Specht, et al.
JIMD Reports
|
August 26, 2015
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I
Katalin M Ross, Laurie M Brown, Michelle M Corrado, et al.
Journal of Inherited Metabolic Disease
|
August 16, 2019
Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review
Kathryn R Dahlberg, Iris A Ferrecchia, Monika Dambska-Williams, et al.
Molecular Therapy. Methods & Clinical Development
|
September 16, 2024
Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis
Karen J Quadrini, Catherine Vrentas, Christian Duke, et al.
Biochemical and Biophysical Research Communications
|
January 26, 2020
Glucose-6-phosphate transporter mediates macrophage proliferation and functions by regulating glycolysis and mitochondrial respiration
Eek Hyung Jeon, Tae Sub Park, Yuyeon Jang, et al.
Journal of Inherited Metabolic Disease
|
April 12, 2017
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control
Fabian Peeks, Thomas A H Steunenberg, Foekje de Boer, et al.
Journal of Health Economics and Outcomes Research
|
February 16, 2026
Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy
Diane M Turner-Bowker, Jessica Butler, Shayna Egan, et al.
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of 10
Search research articles
Search
Showing results (61-70 of 91) with videos related to
Sort By:
Page
of 10
Molecular Genetics and Metabolism
|
January 7, 2014
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene
Deeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
American Journal of Obstetrics and Gynecology
|
February 5, 2008
Pregnancies in glycogen storage disease type Ia
Daniëlle H J Martens, Jan Peter Rake, Martin Schwarz, et al.
Hepatology Communications
|
November 9, 2019
Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI
Lane H Wilson, Jun-Ho Cho, Ana Estrella, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2018
Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia
Young Mok Lee, Thomas J Conlon, Andrew Specht, et al.
JIMD Reports
|
August 26, 2015
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I
Katalin M Ross, Laurie M Brown, Michelle M Corrado, et al.
Journal of Inherited Metabolic Disease
|
August 16, 2019
Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review
Kathryn R Dahlberg, Iris A Ferrecchia, Monika Dambska-Williams, et al.
Molecular Therapy. Methods & Clinical Development
|
September 16, 2024
Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis
Karen J Quadrini, Catherine Vrentas, Christian Duke, et al.
Biochemical and Biophysical Research Communications
|
January 26, 2020
Glucose-6-phosphate transporter mediates macrophage proliferation and functions by regulating glycolysis and mitochondrial respiration
Eek Hyung Jeon, Tae Sub Park, Yuyeon Jang, et al.
Journal of Inherited Metabolic Disease
|
April 12, 2017
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control
Fabian Peeks, Thomas A H Steunenberg, Foekje de Boer, et al.
Journal of Health Economics and Outcomes Research
|
February 16, 2026
Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy
Diane M Turner-Bowker, Jessica Butler, Shayna Egan, et al.
Page
of 10