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1

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

Olga Grafakou, Konrad Oexle, Lambert van den Heuvel, Roel Smeets, Frans Trijbels, Hans H. Goebel, Nils Bosshard, Andrea Superti-Furga, Beat Steinmann, Jan Smeitink

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 345 KB

english, 2003

2

Maternal hyperhomocysteinemia: A risk factor for neural-tube defects?

Régine P.M. Steegers-Theunissen, Godfried H.J. Boers, Frans J.M. Trijbels, James D. Finkelstein, Henk J. Blom, Chris M.G. Thomas, George F. Borm, Maurice G.A.J. Wouters, Tom K.A.B. Eskes

Journal:

Year:

1994

Language:

english

File:

PDF, 755 KB

english, 1994

3

Coronary heart disease mortality, plasma homocysteine, and B-vitamins: a prospective study

Angelika de Bree, W.Monique M. Verschuren, Henk J. Blom, Marie Nadeau, Frans J.M. Trijbels, Daan Kromhout

Journal:

Atherosclerosis

Year:

2003

Language:

english

File:

PDF, 142 KB

english, 2003

4

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Jan Loeffen, Orly Elpeleg, Jan Smeitink, Roel Smeets, Sylvia Stöckler-Ipsiroglu, Hanna Mandel, Rob Sengers, Frans Trijbels, Lambert Van Den Heuvel

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 1.56 MB

english, 2001

5

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation

Markus Schuelke, Heiko Krude, Barbara Finckh, Ertan Mayatepek, Antoon Janssen, Michael Schmelz, Friedrich Trefz, Frans Trijbels, Jan Smeitink

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 3.45 MB

english, 2002

6

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

Eric Z. Jordens, Luigi Palmieri, Marjan Huizing, Lambert P. Van Den Heuvel, Rob C. A. Sengers, Andrea Dörner, Wim Ruitenbeek, Frans J. Trijbels, Jullius Valsson, Gunnlaugur Sigfusson, Ferdinando Palmi

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 2.95 MB

english, 2002

7

Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency

Knut Brockmann, Alf Bjornstad, Peter Dechent, Christoph G. Korenke, Jan Smeitink, J. M. Frans Trijbels, Sabine Athanassopoulos, Rafael Villagran, Ola H. Skjeldal, Ekkehard Wilichowski, Jens Frahm, Fol

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 461 KB

english, 2002

8

Coenzyme Q– responsive Leigh's encephalopathy in two sisters

Lionel Van Maldergem, Frans Trijbels, Salvatore DiMauro, Pavel J. Sindelar, Olimpia Musumeci, Antoon Janssen, Xavier Delberghe, Jean-Jacques Martin, Yves Gillerot

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 104 KB

english, 2002

9

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

Marieke J. H. Coenen, Lambert P. van den Heuvel, Cristina Ugalde, Marike ten Brinke, Leo G. J. Nijtmans, Frans J. M. Trijbels, Skadi Beblo, Esther M. Maier, Ania C. Muntau, Jan A. M. Smeitink

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 264 KB

english, 2004

10

Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system

Antoon J. M. Janssen, Markus Schuelke, Jan A. M. Smeitink, Frans J. M. Trijbels, Rob C. A. Sengers, Barbara Lucke, Liesbeth T. M. Wintjes, Eva Morava, Baziel G. M. van Engelen, Bart W. Smits, Frans A.

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 175 KB

english, 2008

11

Computerized calculation of in vitro generation of ATP and creatine phosphate induced by respiration in human muscle mitochondria

Johan C. Fischer, Wim Ruitenbeek, Ad M. Stadhouders, J.M.Frans Trijbels, Rob C.A. Sengers, Antoon J.M. Janssen, Jacques H. Veerkamp, Réne J.M. Bindels

Journal:

Computers in Biology and Medicine

Year:

1985

Language:

english

File:

PDF, 784 KB

english, 1985

12

Peroxisomal oxidases and catalase in liver and kidney homogenates of normal and di(ethylhexyl)phthalate-fed rats

Frans A.G. Reubsaet, Jacques H. Veerkamp, Marloes L.P. Brückwilder, J.M.Frans Trijbels, Leo A.H. Monnens

Journal:

International Journal of Biochemistry

Year:

1991

Language:

english

File:

PDF, 706 KB

english, 1991

13

Monitoring of inosine monophosphate dehydrogenase activity in mononuclear cells of children with acute lymphoblastic leukemia: Enzymological and clinical aspects

Connie Brouwer, Diana G.M. Vermunt-de Koning, Robert C. Trueworthy, Patricia G.J.H. ter Riet, John A. Duley, Frans J.M. Trijbels, Peter M. Hoogerbrugge, Jos P.M. Bökkerink, Elisabeth R. van Wering, Ro

Journal:

Pediatric Blood & Cancer

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

14

Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients

Leo A. J. Kluijtmans, Henk J. Blom, Godfried H. J. Boers, Bernard A. Oost, Frans J. M. Trijbels, Lambert P. W. J. Heuvel

Journal:

Year:

1995

Language:

english

File:

PDF, 160 KB

english, 1995

15

Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts

Godfried H. J. Boers, B. Fowler, Anthony G. H. Smals, Frans J. M. Trijbels, Annelies I. Leermakers, Wim J. Kleijer, P. W. C. Kloppenborg

Journal:

Year:

1985

Language:

english

File:

PDF, 584 KB

english, 1985

16

Importance of mitochondrial transmembrane processes in human mitochondriopathies

Marjan Huizing, Vito DePinto, Wim Ruitenbeek, Frans J. M. Trijbels, Lambert P. van den Heuvel, Udo Wendel

Journal:

Journal of Bioenergetics and Biomembranes

Year:

1996

Language:

english

File:

PDF, 460 KB

english, 1996

17

De novo double mutation inPAX6and mtDNAtRNALysassociated with atypical aniridia and mitochondrial disease

Anja Brinckmann, Klaus Rüther, Kathleen Williamson, Birgit Lorenz, Barbara Lucke, Peter Nürnberg, Frans Trijbels, Antoon Janssen, Markus Schuelke

Journal:

Journal of Molecular Medicine

Year:

2007

Language:

english

File:

PDF, 319 KB

english, 2007

18

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

19

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome

Eva Morava, Rob Sengers, Henk ter Laak, Lambert van den Heuvel, Antoon Janssen, Frans Trijbels, Hans Cruysberg, Carolien Boelen, Jan Smeitink

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 311 KB

english, 2004

20

Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients

Ralf Triepels, Jan Smeitink, Jan Loeffen, Roel Smeets, Frans Trijbels, Lambert van den Heuvel

Journal:

Year:

2000

Language:

english

File:

PDF, 78 KB

english, 2000

21

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I

J. Smeitink, J. Loeffen, Roel Smeets, Ralf Triepels, W. Ruitenbeek, Frans Trijbels, L. van den Heuvel

Journal:

Year:

1998

Language:

english

File:

PDF, 150 KB

english, 1998

22

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

Ralf Triepels, L. van den Heuvel, J. Loeffen, Roel Smeets, Frans Trijbels, Jan Smeitink

Journal:

Year:

1998

Language:

english

File:

PDF, 170 KB

english, 1998

23

New technique for diagnosis and monitoring of alcaptonuria: quantification of homogentisic acid in urine with mid-infrared spectrometry

A.Patrick J.A. Markus, Dorine W. Swinkels, Bernadette S. Jakobs, Ron A. Wevers, J.M.Frans Trijbels, Hans L. Willems

Journal:

Analytica Chimica Acta

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

24

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

25

10.1038/6772

Smeitink, Jan, Schuelke, Markus, Mariman, Edwin, Loeffen, Jan, Plecko, Barbara, Trijbels, Frans, Stöckler-Ipsiroglu, Sylvia, Heuvel, Lambert van den

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 224 KB

english, 1999

26

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

27

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

28

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

29

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

30

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

31

Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex

Frans J.M. Trijbels, Wim Ruitenbeek, Marjan Huizing, Udo Wendel, Jan A.M. Smeitink, Rob C.A. Sengers

Journal:

Molecular and Cellular Biochemistry

Year:

1997

Language:

english

File:

PDF, 19 KB

english, 1997

32

Human NADH:Ubiquinone Oxidoreductase

Jan Smeitink, Rob Sengers, Frans Trijbels, Lambert van den Heuvel

Journal:

Journal of Bioenergetics and Biomembranes

Year:

2001

Language:

english

File:

PDF, 758 KB

english, 2001

33

Human Mitochondrial Transmembrane Metabolite Carriers: Tissue Distribution and Its Implication for Mitochondrial Disorders

Marjan Huizing, Wim Ruitenbeek, Lambert P. van den Heuvel, Vincenza Dolce, Vito Iacobazzi, Jan A. M. Smeitink, Ferdinando Palmieri, J. M. Frans Trijbels

Journal:

Journal of Bioenergetics and Biomembranes

Year:

1998

Language:

english

File:

PDF, 869 KB

english, 1998

34

Disturbances in mitochondrial transport systems leading to encephalomyopathies

Frans Trijbels, Marjan Huizing, Wim Ruitenbeek, Rob Sengers, Jan Smeitink, Vito Depinto, Udo Wendel

Journal:

Year:

1998

Language:

english

File:

PDF, 25 KB

english, 1998

35

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

36

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

37

Human Diseases with Defects in Oxidative Phosphorylation : 1. Decreased Amounts of Assembled Oxidative Phosphorylation Complexes in Mitochondrial Encephalomyopathies

Herman Bentlage, René de Coo, Henk ter Laak, Rob Sengers, Frans Trijbels, Wim Ruitenbeek, Wolfgang Schlote, Kathy Pfeiffer, Simonida Gencic, Gebhard von Jagow, Hermann Schägger

Journal:

Year:

1995

Language:

english

File:

PDF, 828 KB

english, 1995

38

cDNA Sequence and Chromosomal Localization of the Remaining Three Human Nuclear Encoded Iron Sulphur Protein (IP) Subunits of Complex I: The Human IP Fraction Is Completed

Jan Loeffen, Lambert van den Heuvel, Roel Smeets, Ralf Triepels, Rob Sengers, Frans Trijbels, Jan Smeitink

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 280 KB

english, 1998

39

SURFEIT-1 Gene Analysis and Two-Dimensional Blue Native Gel Electrophoresis in Cytochrome c Oxidase Deficiency

Marieke J.H. Coenen, Lambert P. van den Heuvel, Leo G.J. Nijtmans, Eva Morava, I. Marquardt, Hermann J. Girschick, Frans J.M. Trijbels, Leslie A. Grivell, Jan A.M. Smeitink

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 81 KB

english, 1999

40

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

41

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

42

Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies

Herman A.C.M Bentlage, Antoon J.M Janssen, Anne Chomyn, Giuseppe Attardi, John E Walker, Hermann Schägger, Rob C.A Sengers, Frans J.M Trijbels

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

1995

Language:

english

File:

PDF, 1.50 MB

english, 1995

43

Mechanism of allopurinol-mediated inhibition and stabilization of human orotate phosphoribosyltransferase and orotidine phosphate decarboxylase

Wil J.M. Tax, Jacques H. Veerkamp, Frans J.M. Trijbels, Egbert D.A.M. Schretlen

Journal:

Biochemical Pharmacology

Year:

1976

Language:

english

File:

PDF, 661 KB

english, 1976

44

Reversal of 6-mercaptopurine and 6-methylmercaptopurine ribonucleoside cytotoxicity by amidoimidazole carboxamide ribonucleoside in Molt F4 human malignant T-lymphoblasts

Elisabet H. Stet, Ronney A. De Abreu, Jos P.M. Bökkerink, Trude M. Vogels-Mentink, Lambert H.J. Lambooy, Frans J.M. Trijbels, Robert C. Trueworthy

Journal:

Biochemical Pharmacology

Year:

1993

Language:

english

File:

PDF, 428 KB

english, 1993

45

Reversal of methylmercaptopurine ribonucleoside cytotoxicity by purine ribonucleosides and adenine

Elisabet H. Stet, Ronney A. De Abreu, Jos P.M. Bökkerink, Lambert H.J. Lambooy, Trude M. Vogels-Mentink, Jenneke J. Keizer-Garritsen, Frans J.M. Trijbels

Journal:

Biochemical Pharmacology

Year:

1995

Language:

english

File:

PDF, 774 KB

english, 1995

46

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

47

L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy

Antoon J.M. Janssen, Thomas Plakké, Frans J.M. Trijbels, Rob C.A. Sengers, Leo A.H. Monnens

Journal:

Clinica Chimica Acta

Year:

1981

Language:

english

File:

PDF, 303 KB

english, 1981

48

A new radiochemical assay for fructose-1,6-diphosphatase in human leucocytes

Antoon J.M. Janssen, Frans J.M. Trijbels

Journal:

Clinica Chimica Acta

Year:

1982

Language:

english

File:

PDF, 291 KB

english, 1982

49

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure

Johan C. Fischer, Wim Ruitenbeek, Ad M. Stadhouders, J.M.Frans Trijbels, Rob C.A. Sengers, Antoon J.M. Janssen, Jacques H. Veerkamp

Journal:

Clinica Chimica Acta

Year:

1985

Language:

english

File:

PDF, 1.13 MB

english, 1985

50

Differential investigation of the capacity of succinate oxidation in human skeletal muscle

Johan C. Fischer, Wim Ruitenbeek, Jan A. Berden, J.M.Frans Trijbels, Jacques H. Veerkamp, Ad M. Stadhouders, Rob C.A. Sengers, Antoon J.M. Janssen

Journal:

Clinica Chimica Acta

Year:

1985

Language:

english

File:

PDF, 1.07 MB

english, 1985