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M Bosch

Showing results (371-380 of 412) with videos related to

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Molecular Genetics and Metabolism|May 16, 2025
European guidelines on diagnosis and treatment of phenylketonuria: First revisionA M J van Wegberg, A MacDonald, K Ahring, et al.
European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology|December 6, 2016
Intraoperative ultrasound guidance in breast-conserving surgery shows superiority in oncological outcome, long-term cosmetic and patient-reported outcomes: Final outcomes of a randomized controlled trial (COBALT)J H Volders, M H Haloua, N M A Krekel, et al.
Journal of Inherited Metabolic Disease|April 24, 2026
Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic StrategiesM I Mendes, D E Smith, V Spek, et al.
Pediatrics|May 22, 2013
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective studyStefanie Keil, Karen Anjema, Francjan J van Spronsen, et al.
Behavior Genetics|August 5, 2017
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO StudyRianne 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 studyRianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, et al.
Molecular Genetics and Metabolism|November 5, 2013
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO studyRianne 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 studyStephan 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.
Molecular Genetics and Metabolism|February 21, 2021
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countriesR A F Evers, A M J van Wegberg, K Ahring, et al.
Pageof 42

Showing results (371-380 of 412) with videos related to

Sort By:
Pageof 42
Molecular Genetics and Metabolism|May 16, 2025
European guidelines on diagnosis and treatment of phenylketonuria: First revisionA M J van Wegberg, A MacDonald, K Ahring, et al.
European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology|December 6, 2016
Intraoperative ultrasound guidance in breast-conserving surgery shows superiority in oncological outcome, long-term cosmetic and patient-reported outcomes: Final outcomes of a randomized controlled trial (COBALT)J H Volders, M H Haloua, N M A Krekel, et al.
Journal of Inherited Metabolic Disease|April 24, 2026
Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic StrategiesM I Mendes, D E Smith, V Spek, et al.
Pediatrics|May 22, 2013
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective studyStefanie Keil, Karen Anjema, Francjan J van Spronsen, et al.
Behavior Genetics|August 5, 2017
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO StudyRianne 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 studyRianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, et al.
Molecular Genetics and Metabolism|November 5, 2013
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO studyRianne 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 studyStephan 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.
Molecular Genetics and Metabolism|February 21, 2021
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countriesR A F Evers, A M J van Wegberg, K Ahring, et al.
Pageof 42