Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study von 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

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Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene von 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.

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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 c... von 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.

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Human Complex I Defects Can Be Resolved by Monoclonal Antibody Analysis into Distinct Subunit Assembly Patterns von Triepels, Ralf H., Hanson, Bonnie J., van den Heuvel, Lambert P., Sundell, Linda, Marusich, Michael F., Smeitink, Jan A., Capaldi, Roderick A.

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Assessment of Comorbidity in Bariatric Patients through a Biomarker-Based Model-A Multicenter Validation of the Metabolic Health Index von 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

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The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome von Loeffen, Jan, Smeitink, Jan, Triepels, Ralf, Smeets, Roel, Schuelke, Markus, Sengers, Rob, Trijbels, Frans, Hamel, Ben, Mullaart, Renier, van den Heuvel, Lambert

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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 von TRIEPELS, R, SMEITINK, J, LOEFFEN, J, SMEETS, R, TRIJBELS, F, VAN DEN HEUVEL, L

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

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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... von TRIEPELS, R, VAN DEN HEUVEL, L, LOEFFEN, J, SMEETS, R, TRIJBELS, F, SMEITINK, J

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Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I von SMEITINK, J, LOEFFEN, J, SMEETS, R, TRIEPELS, R, RUITENBEEK, W, TRIJBELS, F, VAN DEN HEUVEL, L

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