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Pediatrics
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May 4, 2004
Living with classical galactosemia: health-related quality of life consequences
Annet M Bosch, Martha A Grootenhuis, Henk D Bakker, et al.
Neonatology
|
September 19, 2022
Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy
Bregje Jaeger, Willemijn Corpeleijn, Monique Dijsselhof, et al.
Journal of Inherited Metabolic Disease
|
December 3, 2024
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals
Nina N Stolwijk, Johannes Häberle, Hidde H Huidekoper, et al.
Molecular Genetics and Metabolism
|
February 8, 2005
Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia
Hidde H Huidekoper, Annet M Bosch, Saskia N van der Crabben, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2025
Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands
Ryan Aukes, Monique Albersen, Anita Boelen, et al.
Molecular Genetics and Metabolism Reports
|
September 19, 2018
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
Annet M Bosch, Erik-Jan Kamsteeg, Richard J Rodenburg, et al.
Human Mutation
|
April 21, 2005
Identification of novel mutations in classical galactosemia
Annet M Bosch, Lodewijk Ijlst, Wendy Oostheim, et al.
European Journal of Pediatrics
|
September 25, 2008
Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature
Peter Schadewaldt, Hans-Werner Hammen, Loganathan Kamalanathan, et al.
Journal of Inherited Metabolic Disease
|
April 28, 2026
Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review
Bregje Jaeger, Nina N Stolwijk, Femke Aaldering, et al.
Disability and Rehabilitation
|
June 2, 2018
The need for additional care in patients with classical galactosaemia
Lindsey Welling, Anke Meester-Delver, Terry G Derks, et al.
Page
of 11
Search research articles
Search
Showing results (21-30 of 103) with videos related to
Sort By:
Page
of 11
Pediatrics
|
May 4, 2004
Living with classical galactosemia: health-related quality of life consequences
Annet M Bosch, Martha A Grootenhuis, Henk D Bakker, et al.
Neonatology
|
September 19, 2022
Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy
Bregje Jaeger, Willemijn Corpeleijn, Monique Dijsselhof, et al.
Journal of Inherited Metabolic Disease
|
December 3, 2024
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals
Nina N Stolwijk, Johannes Häberle, Hidde H Huidekoper, et al.
Molecular Genetics and Metabolism
|
February 8, 2005
Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia
Hidde H Huidekoper, Annet M Bosch, Saskia N van der Crabben, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2025
Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands
Ryan Aukes, Monique Albersen, Anita Boelen, et al.
Molecular Genetics and Metabolism Reports
|
September 19, 2018
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
Annet M Bosch, Erik-Jan Kamsteeg, Richard J Rodenburg, et al.
Human Mutation
|
April 21, 2005
Identification of novel mutations in classical galactosemia
Annet M Bosch, Lodewijk Ijlst, Wendy Oostheim, et al.
European Journal of Pediatrics
|
September 25, 2008
Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature
Peter Schadewaldt, Hans-Werner Hammen, Loganathan Kamalanathan, et al.
Journal of Inherited Metabolic Disease
|
April 28, 2026
Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review
Bregje Jaeger, Nina N Stolwijk, Femke Aaldering, et al.
Disability and Rehabilitation
|
June 2, 2018
The need for additional care in patients with classical galactosaemia
Lindsey Welling, Anke Meester-Delver, Terry G Derks, et al.
Page
of 11