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Clinical Nutrition (Edinburgh, Scotland)
|
September 19, 2020
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer
Suzan J G Knottnerus, Dewi van Harskamp, Henk Schierbeek, et al.
Cellular & Molecular Immunology
|
March 3, 2025
Cholesterol homeostasis and lipid raft dynamics at the basis of tumor-induced immune dysfunction in chronic lymphocytic leukemia
Chaja F Jacobs, Fleur S Peters, Elena Camerini, et al.
Journal of Inherited Metabolic Disease
|
January 25, 2018
The role of the clinician in the multi-omics era: are you ready?
Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.
Journal of Inherited Metabolic Disease
|
August 8, 2018
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure
Esmee Oussoren, Irene M J Mathijssen, Margreet Wagenmakers, et al.
Journal of Medical Genetics
|
July 24, 2023
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
Loek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2025
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group
Michel Tchan, Anna Lehman, Laura van Dussen, et al.
Frontiers in Radiology
|
June 3, 2026
Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities
Elise A Ferreira, Machteld M Oud, Erik-Jan Kamsteeg, et al.
Journal of Inherited Metabolic Disease
|
December 13, 2019
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Hanneke A Haijes, Femke Molema, Mirjam Langeveld, et al.
Orphanet Journal of Rare Diseases
|
January 27, 2016
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
Carla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2023
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
Karolina M Stepien, Janneke G Langendonk, Myriam Dao, et al.
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of 8
Search research articles
Search
Showing results (61-70 of 79) with videos related to
Sort By:
Page
of 8
Clinical Nutrition (Edinburgh, Scotland)
|
September 19, 2020
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer
Suzan J G Knottnerus, Dewi van Harskamp, Henk Schierbeek, et al.
Cellular & Molecular Immunology
|
March 3, 2025
Cholesterol homeostasis and lipid raft dynamics at the basis of tumor-induced immune dysfunction in chronic lymphocytic leukemia
Chaja F Jacobs, Fleur S Peters, Elena Camerini, et al.
Journal of Inherited Metabolic Disease
|
January 25, 2018
The role of the clinician in the multi-omics era: are you ready?
Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.
Journal of Inherited Metabolic Disease
|
August 8, 2018
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure
Esmee Oussoren, Irene M J Mathijssen, Margreet Wagenmakers, et al.
Journal of Medical Genetics
|
July 24, 2023
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
Loek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2025
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group
Michel Tchan, Anna Lehman, Laura van Dussen, et al.
Frontiers in Radiology
|
June 3, 2026
Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities
Elise A Ferreira, Machteld M Oud, Erik-Jan Kamsteeg, et al.
Journal of Inherited Metabolic Disease
|
December 13, 2019
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Hanneke A Haijes, Femke Molema, Mirjam Langeveld, et al.
Orphanet Journal of Rare Diseases
|
January 27, 2016
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
Carla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2023
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
Karolina M Stepien, Janneke G Langendonk, Myriam Dao, et al.
Page
of 8