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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.
Journal of Inherited Metabolic Disease
|
January 20, 2020
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency
Jeannette C Bleeker, Gepke Visser, Kieran Clarke, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Journal of Inherited Metabolic Disease
|
January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
Sarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.
Journal of Inherited Metabolic Disease
|
November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
Ellen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.
Journal of Inherited Metabolic Disease
|
February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Journal of Medical Genetics
|
November 8, 2023
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, et al.
Neurology
|
August 22, 2024
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
Daphne H Schoenmakers, Sibren van den Berg, Lonneke Timmers, et al.
Annals of Neurology
|
October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
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Showing results (71-80 of 79) with videos related to
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Page
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You have reached the last page of results.
This site can display upto 79 results.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.
Journal of Inherited Metabolic Disease
|
January 20, 2020
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency
Jeannette C Bleeker, Gepke Visser, Kieran Clarke, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Journal of Inherited Metabolic Disease
|
January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
Sarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.
Journal of Inherited Metabolic Disease
|
November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
Ellen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.
Journal of Inherited Metabolic Disease
|
February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Journal of Medical Genetics
|
November 8, 2023
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, et al.
Neurology
|
August 22, 2024
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
Daphne H Schoenmakers, Sibren van den Berg, Lonneke Timmers, et al.
Annals of Neurology
|
October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
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of 8