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Molecular Genetics and Metabolism Reports
|
June 27, 2017
Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response
Priscila Nicolao Mazzola, Bruno Costa Teixeira, Gabriel Henrique Schirmbeck, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2021
A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management
Fabian Peeks, Irene J Hoogeveen, R Lude Feldbrugge, et al.
Scientific Reports
|
July 2, 2025
Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia
Francesca Pirozzi, Ramin Amiri, Camilla Luni, 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.
JIMD Reports
|
September 27, 2014
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
Danique van Vliet, Esther van Dam, Margreet van Rijn, et al.
NPJ Genomic Medicine
|
November 10, 2025
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia
Rebecca L Koch, Angie H Fares, Benjamin T Cocanougher, et al.
JIMD Reports
|
January 14, 2022
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures
Annieke Venema, Fabian Peeks, Marlies de Bruijn-van der Veen, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2018
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring
Irene J Hoogeveen, Fabian Peeks, Foekje de Boer, et al.
Molecular Genetics and Metabolism
|
July 25, 2018
Safety issues associated with dietary management in patients with hepatic glycogen storage disease
Thomas A H Steunenberg, Fabian Peeks, Irene J Hoogeveen, et al.
Neonatology
|
February 25, 2016
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes
Willemijn J van Rijt, Geneviève D Koolhaas, Jolita Bekhof, et al.
Page
of 17
Search research articles
Search
Showing results (91-100 of 167) with videos related to
Sort By:
Page
of 17
Molecular Genetics and Metabolism Reports
|
June 27, 2017
Acute exercise in treated phenylketonuria patients: Physical activity and biochemical response
Priscila Nicolao Mazzola, Bruno Costa Teixeira, Gabriel Henrique Schirmbeck, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2021
A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management
Fabian Peeks, Irene J Hoogeveen, R Lude Feldbrugge, et al.
Scientific Reports
|
July 2, 2025
Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia
Francesca Pirozzi, Ramin Amiri, Camilla Luni, 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.
JIMD Reports
|
September 27, 2014
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
Danique van Vliet, Esther van Dam, Margreet van Rijn, et al.
NPJ Genomic Medicine
|
November 10, 2025
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia
Rebecca L Koch, Angie H Fares, Benjamin T Cocanougher, et al.
JIMD Reports
|
January 14, 2022
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures
Annieke Venema, Fabian Peeks, Marlies de Bruijn-van der Veen, et al.
Journal of Inherited Metabolic Disease
|
March 31, 2018
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring
Irene J Hoogeveen, Fabian Peeks, Foekje de Boer, et al.
Molecular Genetics and Metabolism
|
July 25, 2018
Safety issues associated with dietary management in patients with hepatic glycogen storage disease
Thomas A H Steunenberg, Fabian Peeks, Irene J Hoogeveen, et al.
Neonatology
|
February 25, 2016
Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes
Willemijn J van Rijt, Geneviève D Koolhaas, Jolita Bekhof, et al.
Page
of 17