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Journal of Inherited Metabolic Disease
|
September 4, 2021
MPS I: Early diagnosis, bone disease and treatment, where are we now?
Sandra D K Kingma, An I Jonckheere
Journal of Inherited Metabolic Disease
|
August 30, 2011
Mitochondrial ATP synthase: architecture, function and pathology
An I Jonckheere, Jan A M Smeitink, Richard J T Rodenburg
JIMD Reports
|
May 12, 2021
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Sandra D K Kingma, Berten Ceulemans, Sandra Kenis, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 24, 2023
Metachromatic leukodystrophy: To screen or not to screen?
An I Jonckheere, Sandra D K Kingma, François Eyskens, et al.
Clinical Chemistry
|
January 2, 2010
High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders
An I Jonckheere, Merei Huigsloot, Antoon J M Janssen, et al.
Mitochondrion
|
November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?
Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
BMC Cardiovascular Disorders
|
May 28, 2016
Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity
Tahnee Sente, An M Van Berendoncks, An I Jonckheere, et al.
Molecular Genetics and Metabolism Reports
|
March 12, 2024
Natural history of three late-diagnosed classic Galactosemia patients
Dulce Quelhas, Sandra D K Kingma, An I Jonckheere, et al.
Brain : a Journal of Neurology
|
April 20, 2013
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy
An I Jonckheere, G Herma Renkema, Maaike Bras, et al.
Scientific Reports
|
January 27, 2015
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning
Lionel Blanchet, Jan A M Smeitink, Sjenet E van Emst-de Vries, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
Journal of Inherited Metabolic Disease
|
September 4, 2021
MPS I: Early diagnosis, bone disease and treatment, where are we now?
Sandra D K Kingma, An I Jonckheere
Journal of Inherited Metabolic Disease
|
August 30, 2011
Mitochondrial ATP synthase: architecture, function and pathology
An I Jonckheere, Jan A M Smeitink, Richard J T Rodenburg
JIMD Reports
|
May 12, 2021
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Sandra D K Kingma, Berten Ceulemans, Sandra Kenis, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 24, 2023
Metachromatic leukodystrophy: To screen or not to screen?
An I Jonckheere, Sandra D K Kingma, François Eyskens, et al.
Clinical Chemistry
|
January 2, 2010
High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders
An I Jonckheere, Merei Huigsloot, Antoon J M Janssen, et al.
Mitochondrion
|
November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?
Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
BMC Cardiovascular Disorders
|
May 28, 2016
Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity
Tahnee Sente, An M Van Berendoncks, An I Jonckheere, et al.
Molecular Genetics and Metabolism Reports
|
March 12, 2024
Natural history of three late-diagnosed classic Galactosemia patients
Dulce Quelhas, Sandra D K Kingma, An I Jonckheere, et al.
Brain : a Journal of Neurology
|
April 20, 2013
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy
An I Jonckheere, G Herma Renkema, Maaike Bras, et al.
Scientific Reports
|
January 27, 2015
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning
Lionel Blanchet, Jan A M Smeitink, Sjenet E van Emst-de Vries, et al.
Page
of 2