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Journal of Inherited Metabolic Disease
|
April 25, 2024
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
Britt Derks, Varsha Shashi Kumar, Sai Yadnik, et al.
JIMD Reports
|
April 10, 2017
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
Lindsey Welling, Susan E Waisbren, Kevin M Antshel, et al.
Journal of Inherited Metabolic Disease
|
February 4, 2011
Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life
Amber E ten Hoedt, Heleen Maurice-Stam, Carolien C A Boelen, et al.
Acta Neuropsychiatrica
|
January 5, 2024
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability
Merel E Hermans, Gert J Geurtsen, Carla E M Hollak, et al.
JIMD Reports
|
September 6, 2021
Abnormal <i>N</i>-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake
Eileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.
Molecular Genetics and Metabolism
|
October 9, 2013
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures
Marieke G A de Roo, Nico G G M Abeling, Charles B Majoie, et al.
Molecular Genetics and Metabolism
|
March 27, 2007
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
André B P van Kuilenburg, Judith Meijer, Doreen Dobritzsch, et al.
JIMD Reports
|
December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Britt van Erven, Lindsey Welling, Sandra C van Calcar, et al.
Journal of Inherited Metabolic Disease
|
March 20, 2023
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public-private partnerships
Noa Rosenberg, Nina N Stolwijk, Sibren van den Berg, et al.
European Thyroid Journal
|
June 28, 2021
Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin
Kevin Stroek, Annemieke C Heijboer, Marja van Veen-Sijne, et al.
Page
of 11
Search research articles
Search
Showing results (41-50 of 103) with videos related to
Sort By:
Page
of 11
Journal of Inherited Metabolic Disease
|
April 25, 2024
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
Britt Derks, Varsha Shashi Kumar, Sai Yadnik, et al.
JIMD Reports
|
April 10, 2017
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
Lindsey Welling, Susan E Waisbren, Kevin M Antshel, et al.
Journal of Inherited Metabolic Disease
|
February 4, 2011
Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life
Amber E ten Hoedt, Heleen Maurice-Stam, Carolien C A Boelen, et al.
Acta Neuropsychiatrica
|
January 5, 2024
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability
Merel E Hermans, Gert J Geurtsen, Carla E M Hollak, et al.
JIMD Reports
|
September 6, 2021
Abnormal <i>N</i>-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake
Eileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.
Molecular Genetics and Metabolism
|
October 9, 2013
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures
Marieke G A de Roo, Nico G G M Abeling, Charles B Majoie, et al.
Molecular Genetics and Metabolism
|
March 27, 2007
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
André B P van Kuilenburg, Judith Meijer, Doreen Dobritzsch, et al.
JIMD Reports
|
December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Britt van Erven, Lindsey Welling, Sandra C van Calcar, et al.
Journal of Inherited Metabolic Disease
|
March 20, 2023
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public-private partnerships
Noa Rosenberg, Nina N Stolwijk, Sibren van den Berg, et al.
European Thyroid Journal
|
June 28, 2021
Improving the Dutch Newborn Screening for Central Congenital Hypothyroidism by Using 95% Reference Intervals for Thyroxine-Binding Globulin
Kevin Stroek, Annemieke C Heijboer, Marja van Veen-Sijne, et al.
Page
of 11