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Journal of Inherited Metabolic Disease
|
August 15, 2024
Health and well-being of maturing adults with classic galactosemia
Olivia S Garrett, Jared J Druss, E Naomi Vos, et al.
Orphanet Journal of Rare Diseases
|
May 29, 2012
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Catharina M L Touw, G Peter A Smit, Maaike de Vries, et al.
The Lancet. Diabetes & Endocrinology
|
January 14, 2017
Key European guidelines for the diagnosis and management of patients with phenylketonuria
Francjan J van Spronsen, Annemiek Mj van Wegberg, Kirsten Ahring, et al.
Pediatrics
|
May 22, 2013
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study
Stefanie Keil, Karen Anjema, Francjan J van Spronsen, 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.
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.
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.
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.
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of 11
Search research articles
Search
Showing results (81-90 of 103) with videos related to
Sort By:
Page
of 11
Journal of Inherited Metabolic Disease
|
August 15, 2024
Health and well-being of maturing adults with classic galactosemia
Olivia S Garrett, Jared J Druss, E Naomi Vos, et al.
Orphanet Journal of Rare Diseases
|
May 29, 2012
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Catharina M L Touw, G Peter A Smit, Maaike de Vries, et al.
The Lancet. Diabetes & Endocrinology
|
January 14, 2017
Key European guidelines for the diagnosis and management of patients with phenylketonuria
Francjan J van Spronsen, Annemiek Mj van Wegberg, Kirsten Ahring, et al.
Pediatrics
|
May 22, 2013
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study
Stefanie Keil, Karen Anjema, Francjan J van Spronsen, 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.
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.
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.
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.
Page
of 11