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Neuropsychology
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March 21, 2017
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study
Rianne Jahja, Stephan C J Huijbregts, Leo M J de Sonneville, et al.
JIMD Reports
|
July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization
Kevin Stroek, Anita Boelen, Marelle J Bouva, et al.
Brain Communications
|
September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers
Mendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.
Human Molecular Genetics
|
January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function
Wei Ba, Yan Yan, Margot R F Reijnders, et al.
Molecular Genetics and Metabolism
|
December 27, 2014
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
Geertje B Liemburg, Rianne Jahja, Francjan J van Spronsen, et al.
Clinical Nutrition (Edinburgh, Scotland)
|
January 16, 2021
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome
F Molema, H A Haijes, M C Janssen, et al.
Journal of Inherited Metabolic Disease
|
November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Lindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.
Thrombosis Research
|
December 27, 2024
Tumor gene expression is associated with venous thromboembolism in patients with ductal pancreatic adenocarcinoma
Floris T M Bosch, Frederike Dijk, Saskia Briedé, et al.
JIMD Reports
|
March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation
Karlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 19, 2020
Galactokinase deficiency: lessons from the GalNet registry
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Page
of 42
Search research articles
Search
Showing results (381-390 of 412) with videos related to
Sort By:
Page
of 42
Neuropsychology
|
March 21, 2017
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study
Rianne Jahja, Stephan C J Huijbregts, Leo M J de Sonneville, et al.
JIMD Reports
|
July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization
Kevin Stroek, Anita Boelen, Marelle J Bouva, et al.
Brain Communications
|
September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers
Mendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.
Human Molecular Genetics
|
January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function
Wei Ba, Yan Yan, Margot R F Reijnders, et al.
Molecular Genetics and Metabolism
|
December 27, 2014
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
Geertje B Liemburg, Rianne Jahja, Francjan J van Spronsen, et al.
Clinical Nutrition (Edinburgh, Scotland)
|
January 16, 2021
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome
F Molema, H A Haijes, M C Janssen, et al.
Journal of Inherited Metabolic Disease
|
November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Lindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.
Thrombosis Research
|
December 27, 2024
Tumor gene expression is associated with venous thromboembolism in patients with ductal pancreatic adenocarcinoma
Floris T M Bosch, Frederike Dijk, Saskia Briedé, et al.
JIMD Reports
|
March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation
Karlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 19, 2020
Galactokinase deficiency: lessons from the GalNet registry
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Page
of 42