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Journal of Inherited Metabolic Disease
|
October 21, 2021
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
Vivian Lehmann, Imre F Schene, Arif I Ardisasmita, 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.
The American Journal of Clinical Nutrition
|
May 9, 2014
Vitamin B-6 vitamers in human plasma and cerebrospinal fluid
Monique Albersen, Marjolein Bosma, Jurjen J Luykx, et al.
Frontiers in Molecular Biosciences
|
November 29, 2023
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases
Anke P Willems, Maria van der Ham, Birgit G M Schiebergen-Bronkhorst, et al.
Blood Reviews
|
September 13, 2025
Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review
Sigrid van der Veen, Judith J M Jans, Eduard J van Beers, et al.
The Journal of Pediatrics
|
February 24, 2023
Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study
Arthur Edridge, Ruth Namazzi, Andrew Tebulo, et al.
JIMD Reports
|
December 26, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseases
I J Hieltjes, J H van der Lee, M C Groenendijk, et al.
JCO Precision Oncology
|
February 21, 2025
Urinary Catecholamines Predict Relapse During Complete Remission in High-Risk Neuroblastoma
Yvette A H Matser, Atia Samim, Marta Fiocco, et al.
Clinical Nutrition (Edinburgh, Scotland)
|
January 16, 2021
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome
F Molema, H A Haijes, M C Janssen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 5, 2016
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
Glen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, et al.
Page
of 15
Search research articles
Search
Showing results (121-130 of 142) with videos related to
Sort By:
Page
of 15
Journal of Inherited Metabolic Disease
|
October 21, 2021
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
Vivian Lehmann, Imre F Schene, Arif I Ardisasmita, 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.
The American Journal of Clinical Nutrition
|
May 9, 2014
Vitamin B-6 vitamers in human plasma and cerebrospinal fluid
Monique Albersen, Marjolein Bosma, Jurjen J Luykx, et al.
Frontiers in Molecular Biosciences
|
November 29, 2023
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases
Anke P Willems, Maria van der Ham, Birgit G M Schiebergen-Bronkhorst, et al.
Blood Reviews
|
September 13, 2025
Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review
Sigrid van der Veen, Judith J M Jans, Eduard J van Beers, et al.
The Journal of Pediatrics
|
February 24, 2023
Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study
Arthur Edridge, Ruth Namazzi, Andrew Tebulo, et al.
JIMD Reports
|
December 26, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseases
I J Hieltjes, J H van der Lee, M C Groenendijk, et al.
JCO Precision Oncology
|
February 21, 2025
Urinary Catecholamines Predict Relapse During Complete Remission in High-Risk Neuroblastoma
Yvette A H Matser, Atia Samim, Marta Fiocco, et al.
Clinical Nutrition (Edinburgh, Scotland)
|
January 16, 2021
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome
F Molema, H A Haijes, M C Janssen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 5, 2016
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
Glen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, et al.
Page
of 15