J. M. Frans Trijbels: шукати на сайті Z-Library

Рік:

2001

Мова:

english

Файл:

PDF, 1.56 MB

english, 2001

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

Журнал:

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

Рік:

2002

Мова:

english

Файл:

PDF, 3.45 MB

english, 2002

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

Журнал:

Рік:

2002

Мова:

english

Файл:

PDF, 2.95 MB

english, 2002

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

Журнал:

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

Рік:

2002

Мова:

english

Файл:

PDF, 461 KB

english, 2002

Coenzyme Q– responsive Leigh's encephalopathy in two sisters

Журнал:

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

Рік:

2002

Мова:

english

Файл:

PDF, 104 KB

english, 2002

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

Журнал:

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.

Рік:

2004

Мова:

english

Файл:

PDF, 264 KB

english, 2004

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

Журнал:

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

Рік:

2008

Мова:

english

Файл:

PDF, 175 KB

english, 2008

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

Журнал:

Computers in Biology and Medicine

Рік:

1985

Мова:

english

Файл:

PDF, 784 KB

english, 1985

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

Журнал:

International Journal of Biochemistry

Рік:

1991

Мова:

english

Файл:

PDF, 706 KB

english, 1991

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

Журнал:

Pediatric Blood & Cancer

Рік:

2006

Мова:

english

Файл:

PDF, 111 KB

english, 2006

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

Журнал:

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

Рік:

1995

Мова:

english

Файл:

PDF, 160 KB

english, 1995

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

Журнал:

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

Рік:

1985

Мова:

english

Файл:

PDF, 584 KB

english, 1985

Importance of mitochondrial transmembrane processes in human mitochondriopathies

Журнал:

Journal of Bioenergetics and Biomembranes

Рік:

1996

Мова:

english

Файл:

PDF, 460 KB

english, 1996

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

Журнал:

Journal of Molecular Medicine

Рік:

2007

Мова:

english

Файл:

PDF, 319 KB

english, 2007

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

Журнал:

Journal of Molecular Medicine

Рік:

2001

Мова:

english

Файл:

PDF, 79 KB

english, 2001

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

Журнал:

European Journal of Pediatrics

Рік:

2004

Мова:

english

Файл:

PDF, 311 KB

english, 2004

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

Журнал:

Рік:

2000

Мова:

english

Файл:

PDF, 78 KB

english, 2000

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

Журнал:

Рік:

1998

Мова:

english

Файл:

PDF, 150 KB

english, 1998

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

Журнал:

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

Рік:

1998

Мова:

english

Файл:

PDF, 170 KB

english, 1998

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

Журнал:

Analytica Chimica Acta

Рік:

2001

Мова:

english

Файл:

PDF, 90 KB

english, 2001

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

Журнал:

Clinical Genetics

Рік:

1998

Мова:

english

Файл:

PDF, 605 KB

english, 1998

10.1038/6772

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

Журнал:

Nature Genetics

Рік:

1999

Мова:

english

Файл:

PDF, 224 KB

english, 1999

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

Журнал:

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

Рік:

1998

Мова:

english

Файл:

PDF, 134 KB

english, 1998

Molecular genetic analysis of human folate receptors in neural tube defects

Журнал:

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

Рік:

1999

Мова:

english

Файл:

PDF, 95 KB

english, 1999

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

Журнал:

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

Рік:

2001

Мова:

english

Файл:

PDF, 188 KB

english, 2001

Cystathionine β-synthase polymorphisms and hyperhomocysteinaemia: an association study

Журнал:

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

Рік:

2003

Мова:

english

Файл:

PDF, 94 KB

english, 2003

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

Журнал:

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

Рік:

2002

Мова:

english

Файл:

PDF, 106 KB

english, 2002

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

Журнал:

Molecular and Cellular Biochemistry

Рік:

1997

Мова:

english

Файл:

PDF, 19 KB

english, 1997

Human NADH:Ubiquinone Oxidoreductase

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

Журнал:

Journal of Bioenergetics and Biomembranes

Рік:

2001

Мова:

english

Файл:

PDF, 758 KB

english, 2001

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

Журнал:

Journal of Bioenergetics and Biomembranes

Рік:

1998

Мова:

english

Файл:

PDF, 869 KB

english, 1998

Disturbances in mitochondrial transport systems leading to encephalomyopathies

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

Журнал:

BioFactors

Рік:

1998

Мова:

english

Файл:

PDF, 25 KB

english, 1998

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

Журнал:

Birth Defects Research Part A: Clinical and Molecular Teratology

Рік:

1994

Мова:

english

Файл:

PDF, 1.18 MB

english, 1994

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

Журнал:

Biochemical and Molecular Medicine

Рік:

1997

Мова:

english

Файл:

PDF, 70 KB

english, 1997

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

Журнал:

FEBS Journal

Рік:

1995

Мова:

english

Файл:

PDF, 828 KB

english, 1995

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

Журнал:

Biochemical and Biophysical Research Communications

Рік:

1998

Мова:

english

Файл:

PDF, 280 KB

english, 1998

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

Журнал:

Biochemical and Biophysical Research Communications

Рік:

1999

Мова:

english

Файл:

PDF, 81 KB

english, 1999

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

Журнал:

Molecular Genetics and Metabolism

Рік:

2000

Мова:

english

Файл:

PDF, 175 KB

english, 2000

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

Журнал:

Molecular Genetics and Metabolism

Рік:

2001

Мова:

english

Файл:

PDF, 200 KB

english, 2001

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

Журнал:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Рік:

1995

Мова:

english

Файл:

PDF, 1.50 MB

english, 1995

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

Журнал:

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

Рік:

1976

Мова:

english

Файл:

PDF, 661 KB

english, 1976

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

Журнал:

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

Рік:

1993

Мова:

english

Файл:

PDF, 428 KB

english, 1993

Reversal of methylmercaptopurine ribonucleoside cytotoxicity by purine ribonucleosides and adenine

Журнал:

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

Рік:

1995

Мова:

english

Файл:

PDF, 774 KB

english, 1995

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

Журнал:

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

Рік:

1996

Мова:

english

Файл:

PDF, 827 KB

english, 1996

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

Журнал:

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

Рік:

1981

Мова:

english

Файл:

PDF, 303 KB

english, 1981

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

Журнал:

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

Рік:

1982

Мова:

english

Файл:

PDF, 291 KB

english, 1982

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

Журнал:

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

Рік:

1985

Мова:

english

Файл:

PDF, 1.13 MB

english, 1985

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

Журнал: