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51

A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk

Karin J. Lievers, Godfried H. Boers, Petra Verhoef, Martin Heijer, Leo A. Kluijtmans, Nathalie M. Put, Frans J. Trijbels, Henk J. Blom

Journal:

Journal of Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 79 KB

english, 2001

52

Vitamin B12Deficiency Stimulates Osteoclastogenesis via Increased Homocysteine and Methylmalonic Acid

Bart L. T. Vaes, Carolien Lute, Henk J. Blom, Nathalie Bravenboer, Teun J. de Vries, Vincent Everts, Rosalie A. Dhonukshe-Rutten, Michael Müller, Lisette C. P. G. M. de Groot, Wilma T. Steegenga

Journal:

Calcified Tissue International

Year:

2009

Language:

english

File:

PDF, 499 KB

english, 2009

53

Methylmalonic acid values in healthy Dutch children

Marije Hogeveen, Ingrid van Beynum, Arno van Rooij, Leo Kluijtmans, Martin den Heijer, Henk Blom

Journal:

European Journal of Nutrition

Year:

2008

Language:

english

File:

PDF, 293 KB

english, 2008

54

Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency

Sema Kalkan Ucar, Özge Altun Koroğlu, Ömer Berk, Mehmet Yalaz, Nilgün Kültürsay, Henk J. Blom, Mahmut Coker

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 79 KB

english, 2010

55

Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis

Elena N. Levtchenko, Carin M. van Dael, Addy C. de Graaf-Hess, Martijn J. G. Wilmer, Lambertus P. van den Heuvel, Leo A. Monnens, Henk J. Blom

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 146 KB

english, 2006

56

Treatment of hyperhomocysteinemia in children on dialysis by folic acid

C. H. Schröder, Alberdina W. de Boer, Anne-Marie Giesen, Leo A. H. Monnens, Henk Blom

Journal:

Pediatric Nephrology

Year:

1999

Language:

english

File:

PDF, 20 KB

english, 1999

57

The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk

Ivon J. M. van der Linden, Sandra G. Heil, Martin den Heijer, Henk J. Blom

Journal:

Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 146 KB

english, 2007

58

S-adenosylmethionine andS-adenosylhomocysteine levels in the aging brain of APP/PS1 Alzheimer mice

Carlijn R. Hooijmans, Henk J. Blom, Dinny Oppenraaij-Emmerzaal, Merel Ritskes-Hoitinga, Amanda J. Kiliaan

Journal:

Neurological Sciences

Year:

2009

Language:

english

File:

PDF, 282 KB

english, 2009

59

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)

Sandra G. Heil, Marije Hogeveen, Leo A. J. Kluijtmans, P. J. van Dijken, Gerard B. van de Berg, Henk J. Blom, Eva Morava

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 173 KB

english, 2007

60

The homocysteine controversy

Yvo M. Smulders, Henk J. Blom

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 138 KB

english, 2011

61

Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects

Henk J. Blom, Yvo Smulders

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 176 KB

english, 2011

62

Foreword to special issue on homocysteine disorders

Brian Fowler, Henk J. Blom, Viktor Kožich

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

63

Pulsed amperometric detection of carbohydrates in lysosomal storage disease fibroblasts: A new screening technique for carbohydrate storage diseases

Henk J. Blom, Hans C. Andersson, Donna M. Krasnewich, William A. Gahl

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1990

Language:

english

File:

PDF, 711 KB

english, 1990

64

Prospective study of homocysteine and MTHFR 677TT genotype and risk for venous thrombosis in a general population – results from the HUNT 2 study

Inger Anne Næss, Sverre C. Christiansen, Pål R. Romundstad, Suzanne C. Cannegieter, Henk J. Blom, Frits R. Rosendaal, Jens Hammerstrøm

Journal:

British Journal of Haematology

Year:

2008

Language:

english

File:

PDF, 92 KB

english, 2008

65

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

Frans A Hol, Nathalie MJ van der Put, Monique PA Geurds, Sandra G Heil, Frans JM Trijbels, Ben CJ Hamel, Edwin CM Mariman, Henk J Blom

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 605 KB

english, 1998

66

Pelvic floor dysfunction is not a risk factor for febrile urinary tract infection in adults

Cees Van Nieuwkoop, Petra J. Voorham-van der Zalm, Anne-Marike Van Laar, Henk W. Elzevier, Jeanet W. Blom, Olaf M. Dekkers, Rob C.M. Pelger, A. Mieke Van Aartrijk-van Dalen, Marjanne C. Van Tol, Jaap

Journal:

BJU International

Year:

2010

Language:

english

File:

PDF, 272 KB

english, 2010

67

Interactions between nitrifying and denitrifying bacteria in gnotobiotic microcosms planted with the emergent macrophyte Glyceria maxima

Paul L.E Bodelier, Henk Duyts, Cees W.P.M Blom, Hendrikus J Laanbroek

Journal:

FEMS Microbiology Ecology

Year:

1998

Language:

english

File:

PDF, 562 KB

english, 1998

68

Neural tube defects and folate: case far from closed

Blom, Henk J., Shaw, Gary M., den Heijer, Martin, Finnell, Richard H.

Journal:

Nature Reviews Neuroscience

Year:

2006

Language:

english

File:

PDF, 388 KB

english, 2006

69

Fasting Ghrelin Does Not Predict Food Intake after Short-term Energy Restriction

Wendy A. M. Blom, Monica Mars, Henk F. J. Hendriks, Lisette C.P.G.M. de Groot, Annette Stafleu, Frans J. Kok, Dr. Cees de Graaf

Journal:

Year:

2006

Language:

english

File:

PDF, 195 KB

english, 2006

70

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency

Kluijtmans, Leo AJ, Wendel, Udo, Stevens, Erik MB, van den Heuvel, Lambert PWJ, Trijbels, Frans JM, Blom, Henk J

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 134 KB

english, 1998

71

Molecular genetic analysis of human folate receptors in neural tube defects

Heil, Sandra G, van der Put, Nathalie MJ, Trijbels, Frans JM, Gabreëls, Fons JM, Blom, Henk J

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 95 KB

english, 1999

72

A 31 bp VNTR in the cystathionine β-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels

Lievers, Karin J A, Kluijtmans, Leo A J, Heil, Sandra G, Boers, Godfried H J, Verhoef, Petra, van Oppenraay-Emmerzaal, Dinny, den Heijer, Martin, Trijbels, Frans J M, Blom, Henk J

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 188 KB

english, 2001

73

Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects

Afman, Lydia A, Lievers, Karin J A, van der Put, Nathalie M J, Trijbels, Frans J M, Blom, Henk J

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 106 KB

english, 2002

74

Cystathionine β-synthase polymorphisms and hyperhomocysteinaemia: an association study

Lievers, Karin J A, Kluijtmans, Leo A J, Heil, Sandra G, Boers, Godfried H J, Verhoef, Petra, den Heijer, Martin, Trijbels, Frans J M, Blom, Henk J

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 94 KB

english, 2003

75

Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis

Gellekink, Henkjan, Heijer, Martin den, Kluijtmans, Leo A J, Blom, Henk J

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 106 KB

english, 2004

76

Homocysteine levels – before and after methionine loading – in 51 Dutch families

den Heijer, Martin, Graafsma, Sietze, Lee, Soon Young, van Landeghem, Bart, Kluijtmans, Leo, Verhoef, Petra, Beaty, Terri H, Blom, Henk

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 116 KB

english, 2005

77

Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study

Lievers, Karin J A, Kluijtmans, Leo A J, Blom, Henk J, Wilson, Peter W, Selhub, Jacob, Gottesman, Irving I

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 88 KB

english, 2006

78

Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels

Gellekink, Henkjan, Blom, Henk J, van der Linden, I J M, den Heijer, Martin

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 165 KB

english, 2006

79

Laser Myringotomy versus Ventilation Tubes in Children with Otitis Media with Effusion: A Randomized Trial

Jan Pieter Koopman, A. G. (Nees) Reuchlin, Eelco E. Kummer, Leon J. J. M. Boumans, Evert Rijntjes, L. J. (Hans) Hoeve, Paul G. H. Mulder, Henk M. Blom

Journal:

The Laryngoscope

Year:

2004

Language:

english

File:

PDF, 114 KB

english, 2004

80

Prevention of neural tube defects by and toxicity of L-homocysteine in cultured postimplantation rat embryos

Dr. Leon A. G. J. M. Vanaerts, Henk J. Blom, Ronney A. Deabreu, Frans J. M. Trijbels, Tom K. A. B. Eskes, Jenny H. J. Copius Peereboom-Stegeman, Jan Noordhoek

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1994

Language:

english

File:

PDF, 1.18 MB

english, 1994

81

A Common 844INS68 Insertion Variant in the Cystathionine β-Synthase Gene

Leo A.J. Kluijtmans, Godfried H.J. Boers, Frans J.M. Trijbels, Henriëtte M.A. van Lith-Zanders, Lambert P.W.J. van den Heuvel, Henk J. Blom

Journal:

Biochemical and Molecular Medicine

Year:

1997

Language:

english

File:

PDF, 70 KB

english, 1997

82

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

Holger Cario, Desirée E.C. Smith, Henk Blom, Nenad Blau, Harald Bode, Karlheinz Holzmann, Ulrich Pannicke, Karl-Peter Hopfner, Eva-Maria Rump, Zuleya Ayric, Elisabeth Kohne, Klaus-Michael Debatin, Yvo

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 382 KB

english, 2011

83

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus K. Bjursell, Henk J. Blom, Jordi Asin Cayuela, Martin L. Engvall, Nicole Lesko, Shanti Balasubramaniam, Göran Brandberg, Maria Halldin, Maria Falkenberg, Cornelis Jakobs, Desiree Smith, Eduard

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 623 KB

english, 2011

84

Maternal homocysteine and related B vitamins as risk factors for low birthweight

Marije Hogeveen, Henk J. Blom, Elisabeth H. van der Heijden, Ben A. Semmekrot, Jan M. Sporken, Per M. Ueland, Martin den Heijer

Journal:

American Journal of Obstetrics and Gynecology

Year:

2010

Language:

english

File:

PDF, 352 KB

english, 2010

85

Inhibition of transmethylation disturbs neurulation in chick embryos

Lydia A. Afman, Henk J. Blom, Marie-Jose Drittij, Madeleine R. Brouns, Henny W.M. van Straaten

Journal:

Developmental Brain Research

Year:

2005

Language:

english

File:

PDF, 295 KB

english, 2005

86

Mid-Pregnancy Cotinine and Risks of Orofacial Clefts and Neural Tube Defects

Gary M. Shaw, Suzan L. Carmichael, Stein Emil Vollset, Wei Yang, Richard H. Finnell, Henk Blom, Øivind Midttun, Per M. Ueland

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 88 KB

english, 2009

87

The ratio of S-adenosylmethione and S-adenosyl-homocysteine is increased in the brains of newborn rats in a model of valproic acid teratogenicity

Alexander Semmler, Christian Frisch, Desiree Smith, Henk Blom, Michael Linnebank

Journal:

Year:

2012

Language:

english

File:

PDF, 116 KB

english, 2012

88

Methotrexate in rheumatoid arthritis: An updatewith focus on mechanisms involved in toxicity

Annelies E. van Ede, Roland F.J.M. Laan, Henk J. Blom, Ronney A. De Abreu, Leo B.A. van de Putte

Journal:

Seminars in Arthritis and Rheumatism

Year:

1998

Language:

english

File:

PDF, 1.43 MB

english, 1998

89

Why are homocysteine levels increased in kidney failure? A metabolic approach

Henk J. Blom, S. De Vriese

Journal:

Journal of Laboratory and Clinical Medicine

Year:

2002

Language:

english

File:

PDF, 67 KB

english, 2002

90

A common mutation in the 5,10-methylenetetrahydrofolate reductase gene as a new risk factor for placental vasculopathy

Els F. van der Molen, Guus E. Arends, Willianne L.D.M. Nelen, Nathalie J.M. van der Put, Sandra G. Heil, Tom K.A.B. Eskes, Henk J. Blom

Journal:

American Journal of Obstetrics and Gynecology

Year:

2000

Language:

english

File:

PDF, 37 KB

english, 2000

91

Vitamin and homocysteine status of mothers and infants and the risk of nonsyndromic orofacial clefts

Iris A.L.M van Rooij, Dorine W Swinkels, Henk J Blom, Hans M.W.M Merkus, Régine P.M Steegers-Theunissen

Journal:

American Journal of Obstetrics and Gynecology

Year:

2003

Language:

english

File:

PDF, 117 KB

english, 2003

92

Cystine Dimethylester Model of Cystinosis: Still Reliable?

Wilmer, Martijn J, Willems, Peter H, Verkaart, Sjoerd, Visch, Henk-Jan, de Graaf-Hess, Adriana, Blom, Henk J, Monnens, Leo A, van den Heuvel, Lambertus P, Levtchenko, Elena N

Journal:

Pediatric Research

Year:

2007

Language:

english

File:

PDF, 290 KB

english, 2007

93

[IEEE 2009 17th Mediterranean Conference on Control and Automation (MED) - Thessaloniki, Greece (2009.06.24-2009.06.26)] 2009 17th Mediterranean Conference on Control and Automation - Stochastic reachability as an exit problem

Bujorianu, Manuela L., Blom, Henk A.P.

Year:

2009

Language:

english

File:

PDF, 227 KB

english, 2009

94

Catechol-O-methyltransferase genotype is associated with plasma total homocysteine levels and may increase venous thrombosis risk

Gellekink, Henkjan, Muntjewerff, Jan-Willem, Vermeulen, Sita H. H. M., Hermus, Ad R. M. M., Blom, Henk J., den Heijer, Martin

Journal:

Thrombosis and Haemostasis

Year:

2007

Language:

english

File:

PDF, 310 KB

english, 2007

95

Betaine-Homocysteine Methyltransferase (BHMT): Genomic Sequencing and Relevance to Hyperhomocysteinemia and Vascular Disease in Humans

Sandra G. Heil, Karin J.A. Lievers, Godfried H. Boers, Petra Verhoef, Martin den Heijer, Frans J.M. Trijbels, Henk J. Blom

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 175 KB

english, 2000

96

Is Mutated Serine Hydroxymethyltransferase (SHMT) Involved in the Etiology of Neural Tube Defects?

Sandra G. Heil, Nathalie M.J. Van der Put, Erwin T. Waas, Martin den Heijer, Frans J.M. Trijbels, Henk J. Blom

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 200 KB

english, 2001

97

Neural tube defects and elevated homocysteine levels in amniotic fluid

Régine P. Steegers-Theunissen, Godfried H. Boers, Henk J. Blom, Jan G. Nijhuis, Chris M.G. Thomas, George F. Borm, Tom K. Eskes

Journal:

American Journal of Obstetrics and Gynecology

Year:

1995

Language:

english

File:

PDF, 532 KB

english, 1995

98

Effects on transmethylation by high-dose 6-mercaptopurine and methotrexate infusions during consolidation treatment of acute lymphoblastic leukemia

Carin W. Keuzenkamp-Jansen, Ronney A. De Abreu, Henk J. Blom, Jos P.M. Bökkerink, J.M.Frans Trijbels

Journal:

Biochemical Pharmacology

Year:

1996

Language:

english

File:

PDF, 827 KB

english, 1996

99

Hyperhomocysteinemia: a risk factor for placental abruption or infarction

Toos A.W. Goddijn-Wessel, Maurice G.A.J. Wouters, Els F. v.d. Molen, Marleen D.E.H. Spuijbroek, Régine P.M. Steegers-Theunissen, Henk J. Blom, Godfried H.J. Boers, Tom K.A.B. Eskes

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

1996

Language:

english

File:

PDF, 570 KB

english, 1996

100

Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells

Martijn J.G. Wilmer, Adriana de Graaf-Hess, Henk J. Blom, Henry B.P.M. Dijkman, Leo A. Monnens, Lambertus P. van den Heuvel, Elena N. Levtchenko

Journal:

Biochemical and Biophysical Research Communications

Year:

2005

Language:

english

File:

PDF, 210 KB

english, 2005

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