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Ralf Triepels

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Annette M M Vernooij-van Langen; Edward Dompeling; Bert Elvers; Johan J Gille; Gerard LOEBER; Sandra Reijntjens; Jos Roefs; Ralf H Triepels; Jeannette E Dankert-Roelse
The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.
Annette M M Vernooij-van Langen; Jeannette E Dankert-Roelse; Edward Dompeling; Bert Elvers; Johan J P Gille; J Gerard Loeber; Sandra Reijntjens; Ralf H Triepels; Catharina P B Van der Ploeg
Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study.
Cristina Ugalde; Ralf H Triepels; Marieke Coenen; Lambert P van den Heuvel; Roel Smeets; Johanna Uusimaa; Paz Briones; Jaume Campistol; Kari Majamaa; Jan A M Smeitink; Leo G J Nijtmans
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

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All Publications

2013: Annette M M Vernooij-van Langen; Edward Dompeling; Bert Elvers; Johan J Gille; Gerard LOEBER; Sandra Reijntjens; Jos Roefs; Ralf H Triepels; Jeannette E Dankert-Roelse
The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.
Journal of inherited metabolic disease 2013;36(1):147-54.
2012: Annette M M Vernooij-van Langen; Jeannette E Dankert-Roelse; Edward Dompeling; Bert Elvers; Johan J P Gille; J Gerard Loeber; Sandra Reijntjens; Ralf H Triepels; Catharina P B Van der Ploeg
Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study.
Thorax 2012;67(4):289-95.
2003: Cristina Ugalde; Ralf H Triepels; Marieke Coenen; Lambert P van den Heuvel; Roel Smeets; Johanna Uusimaa; Paz Briones; Jaume Campistol; Kari Majamaa; Jan A M Smeitink; Leo G J Nijtmans
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
Annals of neurology 2003;54(5):665-9.
2001: Ralf H Triepels; Bonnie J Hanson; Lambert P van den Heuvel; L Sundell; Michael F Marusich; Jan A M Smeitink; Roderick A Capaldi
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns.
The Journal of biological chemistry 2001;276(12):8892-7.
2001: Ralf H Triepels; Lambert P van den Heuvel; J M F Trijbels; Jan A M Smeitink
Respiratory chain complex I deficiency.
American journal of medical genetics 2001;106(1):37-45.
2000: Ralf H Triepels; jan smeitink; J L C M Loeffen; Roel Smeets; Frans J M Trijbels; Lambert van Den Heuvel
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.
Human genetics 2000;106(4):385-91.
2000: J L C M Loeffen; Jan A M Smeitink; J M F Trijbels; Antoon J M Janssen; Ralf H Triepels; Rob C A Sengers; Lambert P van den Heuvel
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Human mutation 2000;15(2):123-34.
1999: Ralf H Triepels; Lambert P van den Heuvel; J L C M Loeffen; CA Buskens; Roel Smeets; M Estela Rubio-Gozalbo; S M S Budde; Edwin C M Mariman; F A Wijburg; P G Barth; J M F Trijbels; Jan A M Smeitink
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Annals of neurology 1999;45(6):787-90.
1999: Ralf H Triepels; jan smeitink; J L C M Loeffen; Roel Smeets; CA Buskens; Frans J M Trijbels; Lambert van Den Heuvel
The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.
Journal of inherited metabolic disease 1999;22(2):163-73.
1999: J L C M Loeffen; Roel Smeets; jan smeitink; Ralf H Triepels; Rob C A Sengers; Frans J M Trijbels; Lambert van Den Heuvel
The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.
Journal of inherited metabolic disease 1999;22(1):19-28.
1998: J L C M Loeffen; Ralf H Triepels; Lambert P van den Heuvel; M Schuelke; CA Buskens; Roel Smeets; J M F Trijbels; Jan A M Smeitink
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
Biochemical and biophysical research communications 1998;253(2):415-22.
1998: J L C M Loeffen; jan smeitink; Ralf H Triepels; Roel Smeets; Markus Schuelke; Rob C A Sengers; Frans J M Trijbels; Ben Hamel; Reinier A Mullaart; Lambert van Den Heuvel
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
American journal of human genetics 1998;63(6):1598-608.
1998: Ralf H Triepels; Lambert van Den Heuvel; J L C M Loeffen; Roel Smeets; Frans J M Trijbels; jan smeitink
The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients.
Human genetics 1998;103(5):557-63.
1998: jan smeitink; J L C M Loeffen; Roel Smeets; Ralf H Triepels; Wim Ruitenbeek; Frans J M Trijbels; Lambert van Den Heuvel
Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.
Human genetics 1998;103(2):245-50.
1998: J L C M Loeffen; Lambert van Den Heuvel; Roel Smeets; Ralf H Triepels; Rob C A Sengers; Frans J M Trijbels; jan smeitink
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.
Biochemical and biophysical research communications 1998;247(3):751-8.
1998: Jan A M Smeitink; J L C M Loeffen; Ralf H Triepels; Roel Smeets; J M F Trijbels; Lambert P van den Heuvel
Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.
Human molecular genetics 1998;7(10):1573-9.