Search Results - "Triepels, Ralf"

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study by Vernooij-van Langen, Annette M M, Loeber, J Gerard, Elvers, Bert, Triepels, Ralf H, Gille, Johan J P, Van der Ploeg, Catharina P B, Reijntjens, Sandra, Dompeling, Edward, Dankert-Roelse, Jeannette E

“…Newborn screening for cystic fibrosis (CF) is included in many routine programmes but current strategies have considerable drawbacks, such as false-positive…”
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Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene by Ugalde, Cristina, Triepels, Ralf H., Coenen, Marieke J.H., Van Den Heuvel, Lambert P., Smeets, Roel, Uusimaa, Johanna, Briones, Paz, Campistol, Jaume, Majamaa, Kari, Smeitink, Jan A.M., Nijtmans, Leo G.J.

“…We describe a novel mutation in the ND6 gene (T14487C) in a patient with Leigh syndrome. Biochemical analyses indicated a low complex I activity in the…”
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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 by Vernooij-van Langen, Annette M. M., Loeber, J. Gerard, Elvers, Bert, Triepels, Ralf H., Roefs, Jos, Gille, Johan J., Reijntjens, Sandra, Dompeling, Edward, Dankert-Roelse, Jeannette E.

“…Background Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not…”
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Human Complex I Defects Can Be Resolved by Monoclonal Antibody Analysis into Distinct Subunit Assembly Patterns by Triepels, Ralf H., Hanson, Bonnie J., van den Heuvel, Lambert P., Sundell, Linda, Marusich, Michael F., Smeitink, Jan A., Capaldi, Roderick A.

“…Complex I defects are one of the most frequent causes of mitochondrial respiratory chain disorders. Therefore, it is important to find new approaches for…”
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Assessment of Comorbidity in Bariatric Patients through a Biomarker-Based Model-A Multicenter Validation of the Metabolic Health Index by Gensen, Carmen, van Loon, Saskia L M, van Riel, Natal A, Nienhuijs, Simon, Triepels, Ralf, Kos, Snježana, Mulder, Alide H L, Pouw, Nadine, Scharnhorst, Volkher, Boer, Arjen-Kars

“…The metabolic health index (MHI) is a biomarker-based model that objectively assesses the cumulative impact of comorbidities type 2 diabetes mellitus,…”
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The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome by Loeffen, Jan, Smeitink, Jan, Triepels, Ralf, Smeets, Roel, Schuelke, Markus, Sengers, Rob, Trijbels, Frans, Hamel, Ben, Mullaart, Renier, van den Heuvel, Lambert

“…Nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase (complex I) is the largest multiprotein enzyme complex of the respiratory chain. The…”
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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 by TRIEPELS, R, SMEITINK, J, LOEFFEN, J, SMEETS, R, TRIJBELS, F, VAN DEN HEUVEL, L

“…Deficiency of NADH:ubiquinone oxidoreductase, the first enzyme complex of the mitochondrial respiratory chain, is one of the most frequent causes of human…”
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Hyponatraemia by Koenders, Mieke M J F, Molhoek, E Margo, Apperloo, Fred A J, Triepels, Ralf H

“…Because hyponatraemia can be caused by many disorders, the diagnostic approach to hyponatraemia can be challenging for physicians. Causes of hyponatraemia can…”
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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 by Loeffen, Jan, van den Heuvel, Lambert, Smeets, Roel, Triepels, Ralf, Sengers, Rob, Trijbels, Frans, Smeitink, Jan

“…NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and…”
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The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: CDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients by TRIEPELS, R, VAN DEN HEUVEL, L, LOEFFEN, J, SMEETS, R, TRIJBELS, F, SMEITINK, J

“…We report the cloning of the cDNA sequence of the nuclear-encoded NDUFA8 subunit of NADH: ubiquinone oxidoreductase, the first mitochondrial respiratory chain…”
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Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I by SMEITINK, J, LOEFFEN, J, SMEETS, R, TRIEPELS, R, RUITENBEEK, W, TRIJBELS, F, VAN DEN HEUVEL, L

“…Bovine NADH:ubiquinone oxidoreductase (complex 1) of the mitochondrial respiratory chain consists of about 36 nuclear-encoded subunits. We review the current…”
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