J A Smeitink
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Explore the profile of J A Smeitink including associated specialties, affiliations and a list of published articles.
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79
Citations
1800
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Recent Articles
11.
Jira P, Wanders R, Smeitink J, de Jong J, Wevers R, Oostheim W, et al.
Ann Hum Genet
. 2001 Jun;
65(Pt 3):229-36.
PMID: 11427181
Smith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7-dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway, resulting...
12.
Van den Hout J, Reuser A, De Klerk J, Arts W, Smeitink J, van der Ploeg A
J Inherit Metab Dis
. 2001 Jun;
24(2):266-74.
PMID: 11405345
Pompe disease is a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. In this report we review the first 36 weeks of a clinical study on the safety and...
13.
Smeitink J, Sengers R, Trijbels F, van den Heuvel L
Eur J Pediatr
. 2001 Feb;
159 Suppl 3:S227-31.
PMID: 11216905
Unlabelled: Knowledge concerning the approximately 70 human nuclear genes creating the essential building-blocks of the five multi-protein subunit complexes of the oxidative phosphorylation (OXPHOS) system has been expanded greatly in...
14.
Dionisi-Vici C, Hoffmann G, Leuzzi V, Hoffken H, Brautigam C, Rizzo C, et al.
J Pediatr
. 2001 Feb;
136(4):560-2.
PMID: 10753262
Tyrosine hydroxylase deficiency was diagnosed after determination of cerebrospinal fluid neurotransmitters and DNA analysis in a child with severe axial hypotonia and hypokinesia associated with dystonic and ballistic movements. L-dopa...
15.
de Rijk-van Andel J, Gabreels F, Geurtz B, van den Heuvel L, Smeitink J, Wevers R
Neurology
. 2001 Jan;
55(12):1926-8.
PMID: 11134401
Tyrosine hydroxylase deficiency was confirmed biochemically and genetically in four unrelated Dutch patients. The patients have a hypokinetic-rigid parkinsonian syndrome with symptoms in early infancy (3 to 6 months of...
16.
Triepels R, Hanson B, van den Heuvel L, Sundell L, Marusich M, Smeitink J, et al.
J Biol Chem
. 2000 Dec;
276(12):8892-7.
PMID: 11112787
Complex I defects are one of the most frequent causes of mitochondrial respiratory chain disorders. Therefore, it is important to find new approaches for detecting and characterizing Complex I deficiencies....
17.
Rubio-Gozalbo M, Sengers R, Trijbels J, Doesburg W, Janssen A, Verbeek A, et al.
Neuropediatrics
. 2000 Aug;
31(3):114-21.
PMID: 10963097
The aim of this study was to assess an optimal screening for paediatric patients suspected of mitochondriocytopathy to justify a muscle biopsy. Forty-five patients were included. Medical history, physical examination,...
18.
Jira P, Wevers R, de Jong J, Rubio-Gozalbo E, van Heyst A, Sengers R, et al.
J Lipid Res
. 2000 Aug;
41(8):1339-46.
PMID: 10946022
The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Delta(7)-dehydrocholesterol reductase, which catalyzes the final step of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct...
19.
Budde S, van den Heuvel L, Janssen A, Smeets R, Buskens C, Demeirleir L, et al.
Biochem Biophys Res Commun
. 2000 Aug;
275(1):63-8.
PMID: 10944442
Combined OXPHOS-system enzyme deficiencies are observed in approximately 25% of all OXPHOS-system disturbances. Of these, combined complex I and III deficiency is relatively scarce. So far, only mtDNA and thymidine...
20.
Rubio-Gozalbo M, Dijkman K, van den Heuvel L, Sengers R, Wendel U, Smeitink J
Hum Mutat
. 2000 Jun;
15(6):522-32.
PMID: 10862082
Defects in oxidative phosphorylation (OXPHOS) are genetically unique because the different components involved in this process, respiratory chain enzyme complexes (I, III, and IV) and complex V, are encoded by...