J A Smeitink
Overview
Explore the profile of J A Smeitink including associated specialties, affiliations and a list of published articles.
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Articles
79
Citations
1800
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Recent Articles
1.
Verkaart S, Koopman W, Cheek J, van Emst-de Vries S, van den Heuvel L, Smeitink J, et al.
Biochim Biophys Acta Mol Basis Dis
. 2021 Mar;
1867(6):166105.
PMID: 33674178
No abstract available.
2.
Panneman D, Smeitink J, Rodenburg R
Clin Genet
. 2017 Jul;
93(5):943-951.
PMID: 28686290
Mitochondrial disorders (MDs) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms,...
3.
Engelmann G, Meyburg J, Shahbek N, Al-Ali M, Hairetis M, Baker A, et al.
J Inherit Metab Dis
. 2008 Aug;
31(4):540-6.
PMID: 18704764
A 10-year-old Arabic boy of consanguineous parents has suffered eight episodes of acute liver failure with haemolysis triggered by intercurrent febrile illnesses. The first crisis occurred at 9 months of...
4.
Phoenix C, Schaefer A, Elson J, Morava E, Bugiani M, Uziel G, et al.
Neuromuscul Disord
. 2006 Nov;
16(12):814-20.
PMID: 17123819
Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric patients this can be explained by a...
5.
van den Heuvel L, Smeitink J, Rodenburg R
Mitochondrion
. 2005 Aug;
4(5-6):395-401.
PMID: 16120401
The oxidative phosphorylation system (OXPHOS) is organized in five multi-protein complexes, comprising four complexes (I-IV) of the respiratory chain and ATP synthase (complex V). OXPHOS has a vital role in...
6.
Niers L, Smeitink J, Trijbels J, Sengers R, Janssen A, van den Heuvel L
Prenat Diagn
. 2001 Dec;
21(10):871-80.
PMID: 11746133
NADH:ubiquinone oxidoreductase (complex I of the mitochondrial respiratory chain) deficiency is a severe disorder with an often early fatal outcome. Prenatal diagnosis for complex I defects currently relies mainly on...
7.
Coenen M, van den Heuvel L, Smeitink J
Curr Opin Neurol
. 2001 Nov;
14(6):777-81.
PMID: 11723388
The human oxidative phosphorylation system consists of five multi-subunit complexes of which the individual subunits, with the exception of complex II, are encoded either by mitochondrial or nuclear DNA. Consequently,...
8.
Triepels R, van den Heuvel L, Trijbels J, Smeitink J
Am J Med Genet
. 2001 Oct;
106(1):37-45.
PMID: 11579423
Oxidative phosphorylation disorders make a contribution of 1 per 10,000 live births in man, of which isolated complex I deficiency is frequently the cause. Complex I, or NADH:ubiquinone oxidoreductase, is...
9.
Trijbels J, Sengers R, Mariman E, van den Heuvel L, Wendel U, Koch G, et al.
Neuropediatrics
. 2001 Sep;
32(4):183-90.
PMID: 11571698
Mitochondrial DNA (mtDNA) disorders are clinically very heterogeneous, ranging from single organ involvement to severe multisystem disease. One of the most frequently observed mtDNA mutations is the A-to-G transition at...
10.
van der Meer W, Jakobs B, Bocca G, Smeitink J, Schuurmans Steckhoven J, De Keijzer M
J Clin Pathol
. 2001 Sep;
54(9):724-6.
PMID: 11533084
In general, peripheral blood smears are performed to obtain information with regard to various morphological features as an aid in the diagnosis of infection or malignancy. This report presents a...