Výsledky vyhledávání - "Ralf H. Triepels"

Autor: Mieke M J F, Koenders, E Margo, Molhoek, Fred A J, Apperloo, Ralf H, Triepels

Publikováno v: Nederlands tijdschrift voor geneeskunde. 158

Because hyponatraemia can be caused by many disorders, the diagnostic approach to hyponatraemia can be challenging for physicians. Causes of hyponatraemia can be classified according to a combination of laboratory parameters (e.g. sodium levels and o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::beebb5514564f1a650de7d88b50ead71
https://pubmed.ncbi.nlm.nih.gov/24735809

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Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns

Autor: Lambert P. van den Heuvel, Jan A.M. Smeitink, Linda Sundell, Roderick A. Capaldi, Ralf H. Triepels, Bonnie J. Hanson, Michael F. Marusich

Publikováno v: Journal of Biological Chemistry, 276, 8892-7
Journal of Biological Chemistry, 276, 12, pp. 8892-7

Contains fulltext : 185667.pdf (Publisher’s version ) (Open Access) Complex I defects are one of the most frequent causes of mitochondrial respiratory chain disorders. Therefore, it is important to find new approaches for detecting and characterizi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba3ac4ce41def5c2c6677479e8dcd2ec
https://hdl.handle.net/2066/185667

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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

Autor: Johan J.P. Gille, Edward Dompeling, Ralf H. Triepels, Sandra Reijntjens, J.E. Dankert-Roelse, Annette M. M. Vernooij-van Langen, Jos Roefs, Bert Elvers, J. Gerard Loeber

Publikováno v: Vernooij-van Langen, A M M, Loeber, J G, Elvers, B, Triepels, R H, Roefs, J, Gille, J J, Reijntjens, S, Dompeling, E & Dankert-Roelse, J E 2013, ' 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, vol. 36, no. 1, pp. 147-154 . https://doi.org/10.1007/s10545-012-9498-6
Journal of Inherited Metabolic Disease, 36(1), 147-154. Springer Netherlands
Journal of Inherited Metabolic Disease, 36(1), 147-154. Wiley

Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not known if PAP concentrations are influenced by sex, gestational age, birth weight, blood transfusion or ti

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https://research.vumc.nl/en/publications/32d9363d-d9d5-4c17-85d8-a2f6e714e78f

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

Autor: Leo G.J. Nijtmans, Cristina Ugalde, Jaume Campistol, Jan A.M. Smeitink, Marieke J H Coenen, Ralf H. Triepels, Lambert P. van den Heuvel, Johanna Uusimaa, R.J.H. Smeets, Kari Majamaa, Paz Briones

Publikováno v: Annals of Neurology, 54, 5, pp. 665-9
Annals of Neurology, 54, 665-9

Item does not contain fulltext 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 patient's fibroblasts but normal values in muscle and liver. Cybrid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6343564bcf0c3066f836cc68c7fee963
https://hdl.handle.net/2066/142649

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Respiratory chain complex I deficiency

Autor: L.P.W.J. van den Heuvel, Jan A.M. Smeitink, Ralf H. Triepels, J. M. F. Trijbels

Publikováno v: American Journal of Medical Genetics, 106, 37-45
American Journal of Medical Genetics, 106, 1, pp. 37-45

Item does not contain fulltext Oxidative phosphorylation disorders make a contribution of 1 per 10,000 live births in man, of which isolated complex I deficiency is frequently the cause. Complex I, or NADH:ubiquinone oxidoreductase, is the largest mu

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http://hdl.handle.net/2066/223928

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The First Nuclear-Encoded Complex I Mutation in a Patient wit Leigh Syndrome

Autor: Renier Mullaart, Markus Schuelke, Lambert P. van den Heuvel, R.J.H. Smeets, Ralf H. Triepels, Frans J.M. Trijbels, Rob C.A. Sengers, Jan A.M. Smeitink, Ben C.J. Hamel, Jan Loeffen

Publikováno v: American Journal of Human Genetics, 63, pp. 1598-1608
American Journal of Human Genetics, 63, 1598-1608

SummaryNicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase (complex I) is the largest multiprotein enzyme complex of the respiratory chain. The nuclear-encoded NDUFS8 (TYKY) subunit of complex I is highly conserved among eukaryotes and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afebcf667ddb87c16559837a0a1fcc5e
https://hdl.handle.net/2066/166818

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Akademický článek

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

Autor: Cristina Ugalde, Ralf H. Triepels, Marieke J.H. Coenen, Lambert P. Van Den Heuvel, Roel Smeets, Johanna Uusimaa, Paz Briones, Jaume Campistol, Kari Majamaa, Jan A.M. Smeitink, Leo G.J. Nijtmans

Publikováno v: Annals of Neurology; Nov2003, Vol. 54 Issue 5, p665-669, 5p

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