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Annet M Bosch

Showing results (31-40 of 103) with videos related to

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Frontiers in Pediatrics|March 15, 2017
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical <i>FOXP3</i> MutationPaul Tuijnenburg, Eloy Cuadrado, Annet M Bosch, et al.
Journal of Inherited Metabolic Disease|April 26, 2019
Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type IGé-Ann Kuiper, Stephanie C M Nijmeijer, Manouck J M Roelofs, et al.
Orphanet Journal of Rare Diseases|June 2, 2023
The challenges of classical galactosemia: HRQoL in pediatric and adult patientsMerel E Hermans, Hedy A van Oers, Gert J Geurtsen, et al.
Molecular Genetics and Metabolism|January 10, 2017
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypesLindsey Welling, Anita Boelen, Terry G J Derks, et al.
Reproductive Sciences (Thousand Oaks, Calif.)|December 20, 2007
Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal ageErik A H Knauff, Renate Richardus, Marinus J Eijkemans, et al.
Molecular Genetics and Metabolism|March 28, 2018
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening dataKevin Stroek, Marelle J Bouva, Peter C J I Schielen, et al.
Journal of Inherited Metabolic Disease|August 2, 2025
Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic ReviewNina N Stolwijk, Laura van Dussen, Niels D Reijnhout, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioningHendriekje Eggink, Anouk Kuiper, Kathryn J Peall, et al.
Orphanet Journal of Rare Diseases|January 30, 2016
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?Karen Anjema, Floris C Hofstede, Annet M Bosch, et al.
Orphanet Journal of Rare Diseases|February 28, 2013
Clinical pathways for inborn errors of metabolism: warranted and feasibleSerwet Demirdas, Imke N van Kessel, Marjolein J Korndewal, et al.
Pageof 11

Showing results (31-40 of 103) with videos related to

Sort By:
Pageof 11
Frontiers in Pediatrics|March 15, 2017
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical <i>FOXP3</i> MutationPaul Tuijnenburg, Eloy Cuadrado, Annet M Bosch, et al.
Journal of Inherited Metabolic Disease|April 26, 2019
Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type IGé-Ann Kuiper, Stephanie C M Nijmeijer, Manouck J M Roelofs, et al.
Orphanet Journal of Rare Diseases|June 2, 2023
The challenges of classical galactosemia: HRQoL in pediatric and adult patientsMerel E Hermans, Hedy A van Oers, Gert J Geurtsen, et al.
Molecular Genetics and Metabolism|January 10, 2017
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypesLindsey Welling, Anita Boelen, Terry G J Derks, et al.
Reproductive Sciences (Thousand Oaks, Calif.)|December 20, 2007
Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal ageErik A H Knauff, Renate Richardus, Marinus J Eijkemans, et al.
Molecular Genetics and Metabolism|March 28, 2018
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening dataKevin Stroek, Marelle J Bouva, Peter C J I Schielen, et al.
Journal of Inherited Metabolic Disease|August 2, 2025
Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic ReviewNina N Stolwijk, Laura van Dussen, Niels D Reijnhout, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioningHendriekje Eggink, Anouk Kuiper, Kathryn J Peall, et al.
Orphanet Journal of Rare Diseases|January 30, 2016
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?Karen Anjema, Floris C Hofstede, Annet M Bosch, et al.
Orphanet Journal of Rare Diseases|February 28, 2013
Clinical pathways for inborn errors of metabolism: warranted and feasibleSerwet Demirdas, Imke N van Kessel, Marjolein J Korndewal, et al.
Pageof 11