Search Results - "TRIJBELS, F"

A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects? by van der Put, Nathalie M.J., Gabreëls, Fons, Stevens, Erik M.B., Smeitink, Jan A.M., Trijbels, Frans J.M., Eskes, Tom K.A.B., van den Heuvel, Lambert P., Blom, Henk J.

“…Recently, we showed that homozygosity for the common 677(C→T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the…”
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Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida by van der Put, N M, Steegers-Theunissen, R P, Frosst, P, Trijbels, F J, Eskes, T K, van den Heuvel, L P, Mariman, E C, den Heyer, M, Rozen, R, Blom, H J

“…Periconceptional folate supplementation reduces the risk of neural-tube defects. We studied the frequency of the 677C-->T mutation in the…”
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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy by Smeitink, Jan, Plecko, Barbara, Loeffen, Jan, Mariman, Edwin, Stöckler-Ipsiroglu, Sylvia, Heuvel, Lambert van den, Trijbels, Frans, Schuelke, Markus

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Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease by Kluijtmans, L A, van den Heuvel, L P, Boers, G H, Frosst, P, Stevens, E M, van Oost, B A, den Heijer, M, Trijbels, F J, Rozen, R, Blom, H J

“…Mild hyperhomocysteinemia is an established risk factor for cardiovascular disease. Genetic aberrations in the cystathionine beta-synthase (CBS) and…”
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Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia by ENGBERSEN, A. M. T, FRANKEN, D. G, BOERS, G. H. J, STEVENS, E. M. B, TRIJBELS, F. J. M, BLOM, H. J

“…Thermolability of 5,10-methylenetetrahydrofolate reductase (MTHFR) was examined as a possible cause of mild hyperhomocysteinemia in patients with premature…”
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Decreased methylene tetrahydrofolate reductase activity due to the 677C→T mutation in families with spina bifida offspring by VAN DER PUT, N. M. J, VAN DEN HEUVEL, L. P, STEEGERS-THEUNISSEN, R. P. M, TRIJBELS, F. J. M, ESKES, T. K. A. B, MARIMAN, E. C. M, DEN HEYER, M, BLOM, H. J

“…Periconceptional folate intake reduces both the occurrence and recurrence risk of neural tube defects. Plasma homocysteine levels can be elevated in mothers of…”
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Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss by Wouters, M G, Boers, G H, Blom, H J, Trijbels, F J, Thomas, C M, Borm, G F, Steegers-Theunissen, R P, Eskes, T K

“…To establish the prevalence of hyperhomocysteinemia in women with unexplained recurrent early pregnancy loss. In a patient-control study, the…”
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Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? by Steegers-Theunissen, R P, Boers, G H, Trijbels, F J, Finkelstein, J D, Blom, H J, Thomas, C M, Borm, G F, Wouters, M G, Eskes, T K

“…The maternal vitamin status, especially of folate, is involved in the pathogenesis of neural-tube defects (NTDs). Maternal folate administration can prevent…”
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Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system by Coenen, M. J. H., Smeitink, J. A. M., Smeets, R., Trijbels, F. J. M., Heuvel, L. P.

“…Summary Mitochondria are the main energy‐producing organelles of the cell. Five complexes embedded in the mitochondrial inner membrane, together constituting…”
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The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report by Coenen, M. J. H., Smeitink, J. A. M., Farhoud, M. H., Nijtmans, L. G. J., Rodenburg, R., Janssen, A., Kaauwen, E. P. M., Trijbels, F. J. M., Heuvel, L. P.

“…Summary Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently…”
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The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment by Kluijtmans, Leo A.J., Boers, Godfried H.J., Kraus, Jan P., van den Heuvel, Lambert P. W.J., Cruysberg, Johan R.M., Trijbels, Frans J.M., Blom, Henk J.

“…Homocystinuria due to cystathionine β-synthase (CBS) deficiency, inherited as an autosomal recessive trait, is the most prevalent inborn error of methionine…”
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Molecular beacons: a new approach for semiautomated mutation analysis by Giesendorf, Belinda A. J, Vet, Jacqueline A. M, Tyagi, Sanjay, Mensink, Ewald J. M. G, Trijbels, Frans J. M, Blom, Henk J

“…Molecular beacons are oligonucleotide probes that become fluorescent upon hybridization. We designed molecular beacons to detect a point mutation in the…”
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Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption by van Straaten, H L M, van Tintelen, J P, Trijbels, J M F, van den Heuvel, L P, Troost, D, Rozemuller, J M, Duran, M, de Vries, L S, Schuelke, M, Barth, P G

“…Cerebral developmental abnormalities occur in various inborn errors of metabolism including peroxisomal deficiencies, pyruvate dehydrogenase complex deficiency…”
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Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects by Hol, Frans A, van der Put, Nathalie MJ, Geurds, Monique PA, Heil, Sandra G, Trijbels, Frans JM, Hamel, Ben CJ, Mariman, Edwin CM, Blom, Henk J

“…It is now well recognized that periconceptional folic acid or folic acid containing multivitamin supplementation reduces the risk of neural tube defects…”
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Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi by Niers, L., Heuvel, L. van den, Trijbels, F., Sengers, R., Smeitink, J.

“…Prenatal diagnosis for respiratory chain deficiencies is a complex procedure that requires a thorough diagnostic work‐up of the index patient. This includes…”
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The human nuclear‐encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology by Triepels, R., Smeitink, J., Loeffen, J., Smeets, R., Buskens, C., Trijbels, F., Heuvel, L.

“…We present the cDNA sequence of the human mitochondrial acyl carrier protein NDUFAB1, a nuclear‐encoded subunit of complex I of the mitochondrial respiratory…”
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Homozygous cystathionine β-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis by KLUIJTMANS, L. A. J, BOERS, G. H. J, VERBRUGGEN, B, TRIJBELS, F. J. M, NOVAKOVA, I. R. O, BLOM, H. J

“…Severe hyperhomocysteinemia in its most frequent form, is caused by a homozygous enzymatic deficiency of cystathionine beta-synthase (CBS). A major…”
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Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae by Steegers-Theunissen, R P, Boers, G H, Blom, H J, Trijbels, F J, Eskes, T K

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Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease by Boers, G H, Smals, A G, Trijbels, F J, Fowler, B, Bakkeren, J A, Schoonderwaldt, H C, Kleijer, W J, Kloppenborg, P W

“…Premature arteriosclerosis and thromboembolic events are well-known complications of homozygous homocystinuria due to cystathionine synthase deficiency. It is…”
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Semiautomated DNA Mutation Analysis Using a Robotic Workstation and Molecular Beacons by Smit, Maarten L, Giesendorf, Belinda A.J, Vet, Jacqueline A.M, Trijbels, Frans J.M, Blom, Henk J

“…Our increasing knowledge of the genetic basis of inheritable diseases requires the development of automated reliable methods for high-throughput analyses. We…”
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