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Molecular Genetics and Metabolism
|
July 9, 2026
Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs
Karina A Zeyer, Terry G J Derks, Mirjam Langeveld, et al.
JIMD Reports
|
August 9, 2019
The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease
Simon Körver, Sara A J van de Schraaf, Gert J Geurtsen, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
July 17, 2025
[Inherited metabolic disorders in adults:growing patient numbers, advanced diagnostic tools and new treatment modalities]
Mirjam Langeveld, Martijn C G J Brouwers, Laura van Dussen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 1, 2008
Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease
Karen Ghauharali-van der Vlugt, Mirjam Langeveld, Aldi Poppema, et al.
EMBO Molecular Medicine
|
September 22, 2025
Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models
Adriana S Passadouro, Berith M Balfoort, Mirjam Langeveld, et al.
Journal of Inherited Metabolic Disease
|
July 30, 2025
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders
Marit Schwantje, Marco van Brussel, Tim Takken, et al.
Journal of Inherited Metabolic Disease
|
July 3, 2025
Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases
Mirjam Langeveld, Sandra Sirrs, Daphne H Schoenmakers, et al.
Orphanet Journal of Rare Diseases
|
September 5, 2020
Registries for orphan drugs: generating evidence or marketing tools?
Carla E M Hollak, Sandra Sirrs, Sibren van den Berg, et al.
Frontiers in Pediatrics
|
October 25, 2021
Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective
Tessa van Dijk, Adriana Kater, Marleen Jansen, et al.
Genes
|
March 28, 2025
Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (<i>APOE</i>) Variants
Elise A Ferreira, Machteld M Oud, Saskia N van der Crabben, et al.
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of 8
Search research articles
Search
Showing results (21-30 of 79) with videos related to
Sort By:
Page
of 8
Molecular Genetics and Metabolism
|
July 9, 2026
Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs
Karina A Zeyer, Terry G J Derks, Mirjam Langeveld, et al.
JIMD Reports
|
August 9, 2019
The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease
Simon Körver, Sara A J van de Schraaf, Gert J Geurtsen, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
July 17, 2025
[Inherited metabolic disorders in adults:growing patient numbers, advanced diagnostic tools and new treatment modalities]
Mirjam Langeveld, Martijn C G J Brouwers, Laura van Dussen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 1, 2008
Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease
Karen Ghauharali-van der Vlugt, Mirjam Langeveld, Aldi Poppema, et al.
EMBO Molecular Medicine
|
September 22, 2025
Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models
Adriana S Passadouro, Berith M Balfoort, Mirjam Langeveld, et al.
Journal of Inherited Metabolic Disease
|
July 30, 2025
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders
Marit Schwantje, Marco van Brussel, Tim Takken, et al.
Journal of Inherited Metabolic Disease
|
July 3, 2025
Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases
Mirjam Langeveld, Sandra Sirrs, Daphne H Schoenmakers, et al.
Orphanet Journal of Rare Diseases
|
September 5, 2020
Registries for orphan drugs: generating evidence or marketing tools?
Carla E M Hollak, Sandra Sirrs, Sibren van den Berg, et al.
Frontiers in Pediatrics
|
October 25, 2021
Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective
Tessa van Dijk, Adriana Kater, Marleen Jansen, et al.
Genes
|
March 28, 2025
Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (<i>APOE</i>) Variants
Elise A Ferreira, Machteld M Oud, Saskia N van der Crabben, et al.
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of 8