Prof.dr. H.J. Blom

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Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency (2011)

Auteurs:	Banka, S.; Blom, H.J.; Walter, J.; Aziz, M.; Urquhart, J.; Clouthier, C.M.; Rice, G.I.; Brouwer, A.P.M. de; Hilton, E.; Vassallo, G.; Will, A.; Smith, D.E.; Smulders, Y.M.; Wevers, R.A.; Steinfeld, R.; Heales, S.; Crow, Y.J.; Pelletier, J.N.; Jones, S.; Newman, W.G.
In:	American Journal of Human Genetics, 88, 216 - 225. ISSN 0002-9297.

Samenvatting:

Dihydrofolate reductase (DHFR) is a critical enzyme in folate metabolism and an important target of antineoplastic, antimicrobial, and antiinflammatory drugs. We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pan

No effect of folic acid supplementation on global DNA methylation in men and women with moderately elevated homocysteine (2011)

Auteurs: Jung, A.Y.; Smulders, Y.; Verhoef, P.; Kok, F.J.; Blom, H.J.; Kok, R.M.; Kampman, E.; Durga, J.
In: PLoS ONE, 6, e24976 - e24976. ISSN 1932-6203.

Samenvatting:
A global loss of cytosine methylation in DNA has been implicated in a wide range of diseases. There is growing evidence that modifications in DNA methylation can be brought about by altering the intake of methyl donors such as folate. We examined whether long-term daily supplementation with 0.8 mg o

Auteurs:	Jung, A.Y.; Smulders, Y.; Verhoef, P.; Kok, F.J.; Blom, H.J.; Kok, R.M.; Kampman, E.; Durga, J.
In:	PLoS ONE, 6, e24976 - e24976. ISSN 1932-6203.

Inhibition of methylation decreases osteoblast differentiation via a non-DNA-dependent methylation mechanism (2010)

Auteurs:	Vaes, B.L.T.; Lute, C.; Woning, S.P. van der; Piek, E.; Vermeer, J.; Blom, H.J.; Mathers, J.C.; Muller, M.; Groot, L. de; Steegenga, W.T.
In:	Bone, 46, 514 - 523. ISSN 8756-3282.

Maternal homocysteine and related B vitamins as risk factors for low birthweight. (2010)

Auteurs:	Hogeveen, M.; Blom, H.J.; Heijden, E.H.M. van der; Semmekrot, B.A.; Sporken, J.M.J.; Ueland, P.M.; Heijer, M. den
In:	American Journal of Obstetrics and Gynecology, 202, 572.e1 - 572.e6. ISSN 0002-9378.

Samenvatting:

OBJECTIVE: We designed a large prospective study to explore the relationship between maternal homocysteine concentrations and related B vitamins and birthweight. STUDY DESIGN: Blood was sampled from pregnant women at 30-34 weeks of gestation and their newborn infants (n = 366). RESULTS: Concentratio

The effect of folinic acid supplementation on homocysteine concentrations in newborns. (2010)

Auteurs:	Hogeveen, M.; Heijer, M. den; Schonbeck, Y.; IJland, M.M.; Oppenraaij, D. van; Klein Gunnewiek, J.M.T.; Blom, H.J.
In:	European Journal of Clinical Nutrition, 64, 1266 - 1271. ISSN 0954-3007.

Samenvatting:

OBJECTIVE: The incidence of cerebrovascular accidents (CVA) occurring perinatally is relatively high and aspects of the multifactorial pathophysiology remain unclear. Elevated homocysteine concentrations have been shown to be associated with an increased risk for CVA in children and even in newborns

Protective effect of periconceptional folic acid supplements on the risk of congenital heart defects: a registry-based case-control study in the northern Netherlands. (2010)

Auteurs: Beijnum, I.M. van; Kapusta, L.; Bakker, M.K.; Heijer, M. den; Blom, H.J.; Walle, H.E. de
In: European Heart Journal, 31, 464 - 471. ISSN 0195-668x.

Samenvatting:
AIMS: To investigate the potentially protective of periconceptional folic acid use on the risk of congenital heart defects (CHDs) relative to other non-folate related malformations. METHODS AND RESULTS: We analysed data from a large regional register of birth defects (EUROCAT-Northern Netherlands),
Ovarian cyst fluid of serous ovarian tumors contains large quantities of the brain amino acid N-acetylaspartate. (2010)Open access

Auteurs: Kolwijck, E.; Wevers, R.A.; Engelke, U.F.H.; Woudenberg, J.; Bulten, J.; Blom, H.J.; Massuger, L.F.A.G.
In: PLoS ONE, 5, e10293 - e10293. ISSN 1932-6203.

Samenvatting:
BACKGROUND: In humans, N-acetyl L-aspartate (NAA) has not been detected in other tissues than the brain. The physiological function of NAA is yet undefined. Recently, it has been suggested that NAA may function as a molecular water pump, responsible for the removal of large amounts of water from the

Auteurs:	Beijnum, I.M. van; Kapusta, L.; Bakker, M.K.; Heijer, M. den; Blom, H.J.; Walle, H.E. de
In:	European Heart Journal, 31, 464 - 471. ISSN 0195-668x.

Auteurs:	Kolwijck, E.; Wevers, R.A.; Engelke, U.F.H.; Woudenberg, J.; Bulten, J.; Blom, H.J.; Massuger, L.F.A.G.
In:	PLoS ONE, 5, e10293 - e10293. ISSN 1932-6203.

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (2009)

Auteurs:	Franke, B.; Vermeulen, S.; Steegers-Theunissen, R.P.M.; Coenen, M.J.H.; Schijvenaars, M.M.V.A.P.; Scheffer, H.; Heijer, M. den; Blom, H.J.
In:	Birth Defects Research Part A-Clinical and Molecular Teratology, 85, 216 - 226. ISSN 1542-0752.

Samenvatting:

BACKGROUND: Spina bifida is a class of neural tube defects, which are congenital malformations of the central nervous system with a prevalence of 0.5 to 12 per 1000 births globally. In this article we attempt to identify genes related to folate and its metabolic pathways that are involved in the eti

High-resolution H-1 NMR spectroscopic investigation of a chick embryo model of neural tube development. (2009)

Auteurs: Coen, M.; Wevers, R.A.; Lindon, J.C.; Blom, H.J.
In: Magnetic Resonance in Chemistry, 47, S62 - S67. ISSN 0749-1581.

Auteurs:	Coen, M.; Wevers, R.A.; Lindon, J.C.; Blom, H.J.
In:	Magnetic Resonance in Chemistry, 47, S62 - S67. ISSN 0749-1581.

N-acetyl resonances in in vivo and in vitro NMR spectroscopy of cystic ovarian tumors. (2009)

Auteurs:	Kolwijck, E.; Engelke, U.F.H.; Graaf, M. van der; Heerschap, A.; Blom, H.J.; Hadfoune, M.; Buurman, W.A.; Massuger, L.F.A.G.; Wevers, R.A.
In:	NMR in Biomedicine, 22, 1093 - 1099. ISSN 0952-3480.

Samenvatting:

An unassigned and prominent resonance in the region from delta 2.0-2.1 ppm has frequently been found in the in vivo MR spectra of cancer patients. We demonstrated the presence of this resonance with in vivo MRS in the cyst fluid of a patient with an ovarian tumor. (1)H-NMRS on the aspirated cyst flu

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