Search research articles
Contact Us
Filters
Showing results (31-40 of 52) with videos related to
Page
of 6
Sort By:
Behavior Genetics
|
August 5, 2017
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
Rianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, et al.
Journal of Inherited Metabolic Disease
|
February 26, 2016
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study
Rianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, et al.
Journal of Inherited Metabolic Disease
|
January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients
Saskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.
Molecular Genetics and Metabolism
|
November 5, 2013
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study
Rianne Jahja, Stephan C J Huijbregts, Leo M J de Sonneville, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 8, 2018
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Sabine A Fuchs, Imre F Schene, Gautam Kok, et al.
Molecular Genetics and Metabolism
|
July 16, 2018
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study
Stephan C J Huijbregts, Annet M Bosch, Quirine A Simons, et al.
Journal of Inherited Metabolic Disease
|
December 13, 2019
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Hanneke A Haijes, Femke Molema, Mirjam Langeveld, et al.
International Journal of Neonatal Screening
|
January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
Abigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2016
International Paediatric Mitochondrial Disease Scale
Saskia Koene, Jan C M Hendriks, Ilse Dirks, et al.
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.
Page
of 6
Search research articles
Search
Showing results (31-40 of 52) with videos related to
Sort By:
Page
of 6
Behavior Genetics
|
August 5, 2017
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
Rianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, et al.
Journal of Inherited Metabolic Disease
|
February 26, 2016
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study
Rianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, et al.
Journal of Inherited Metabolic Disease
|
January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients
Saskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.
Molecular Genetics and Metabolism
|
November 5, 2013
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study
Rianne Jahja, Stephan C J Huijbregts, Leo M J de Sonneville, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 8, 2018
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Sabine A Fuchs, Imre F Schene, Gautam Kok, et al.
Molecular Genetics and Metabolism
|
July 16, 2018
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study
Stephan C J Huijbregts, Annet M Bosch, Quirine A Simons, et al.
Journal of Inherited Metabolic Disease
|
December 13, 2019
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Hanneke A Haijes, Femke Molema, Mirjam Langeveld, et al.
International Journal of Neonatal Screening
|
January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
Abigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.
Journal of Inherited Metabolic Disease
|
June 10, 2016
International Paediatric Mitochondrial Disease Scale
Saskia Koene, Jan C M Hendriks, Ilse Dirks, et al.
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.
Page
of 6