Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Maurice D. Laryea"'
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e45110 (2012)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism. In the past, the majority of patie
Externí odkaz:
https://doaj.org/article/e488ed6eedc74f2f86850021d402f2e8
Autor:
Frank ter Veld, Martina Mueller, Simone Kramer, Ulrike Haussmann, Diran Herebian, Ertan Mayatepek, Maurice D Laryea, Sonja Primassin, Ute Spiekerkoetter
Publikováno v:
PLoS ONE, Vol 4, Iss 7, p e6449 (2009)
BACKGROUND:Newborn screening for medium- and very long-chain acyl-CoA dehydrogenase (MCAD and VLCAD, respectively) deficiency, using acylcarnitine profiling with tandem mass spectrometry, has increased the number of patients with fatty acid oxidation
Externí odkaz:
https://doaj.org/article/31cddb109e244951bd50603a3581e4e3
Autor:
Sebastian Illes, Jessica Opatz, Maurice D. Laryea, Mario Siebler, Frauke Otto, Hans-Peter Hartung, Alfons Schnitzler, Marcel Dihné, Stephan Theiss
Publikováno v:
Annals of Neurology. 66:546-555
Neurological diseases frequently induce pathological changes of cerebrospinal fluid (CSF) that might secondarily influence brain activity, as the CSF–brain barrier is partially permeable. However, functional effects of CSF on neuronal network activ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca48df60ab6b67b4a31824ffb0ecef35
https://doi.org/10.1002/ana.21808
https://doi.org/10.1002/ana.21808
Autor:
Maurice D. Laryea, Ute Spiekerkötter, Marc Lamshöft, Diran Herebian, Eva Thimm, Ertan Mayatepek
Publikováno v:
Journal of Chromatography B. 877:1453-1459
In this study, we describe a bioanalytical method for quantification of NTBC in plasma of patients with hereditary tyrosinemia type 1 (HT-1) using high-performance liquid chromatography coupled to tandem mass spectrometry (LC–MS/MS). After protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e66cfcf5090425e5b390d2977c72eb
https://doi.org/10.1016/j.jchromb.2009.03.014
https://doi.org/10.1016/j.jchromb.2009.03.014
Autor:
Guido Kagemann, Ronald Wolf, Markus Walz, Maurice D. Laryea, Helmut Sies, Victoria Kolb-Bachofen, Maximilian Schuier, Ertan Mayatepek, Christoph V. Suschek, Oliver Schnorr, Thomas Ruzicka
Publikováno v:
Free Radical Biology and Medicine. 38:1073-1079
Regulated uptake of extracellular l-arginine by cationic amino acid transporters (CATs) is required for inducible nitric oxide synthase and arginase activity. Both enzymes were recently recognized as important in the pathophysiology of psoriasis beca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7e0c752cdf3487b3c1b921feade7ffe
https://doi.org/10.1016/j.freeradbiomed.2005.01.005
https://doi.org/10.1016/j.freeradbiomed.2005.01.005
Autor:
Sylvain Morneau, Véronique A. Pelletier, Jean-Michel Liet, U. Wendel, Brian H. Robinson, Maurice D. Laryea, Charles Morin, Jacques Lacroix, Grant A. Mitchell
Publikováno v:
The Journal of Pediatrics. 142:62-66
Objective To study the effectiveness of dimethylglycine (DMG) on oxygen consumption (VO2) in children with Saguenay-Lac-Saint-Jean cytochrome-c oxidase (SLSJ-COX) deficiency (OMIM 220111). Study design In a crossover randomized double-blind clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fef646a63ebaedf87c36032dccfa1496
https://doi.org/10.1067/mpd.2003.mpd0333
https://doi.org/10.1067/mpd.2003.mpd0333
Publikováno v:
Clinical Chemistry. 44:1937-1941
A simple and convenient method using commercially available derivatization reagents is described for the measurement of betaine and N,N-dimethylglycine (DMG) in blood and urine. Precolumn derivatization of plasma or urine is performed directly in ace
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d0c5b5f54cd38c1acdd4684866344c3
https://doi.org/10.1093/clinchem/44.9.1937
https://doi.org/10.1093/clinchem/44.9.1937
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e45110 (2012)
PLoS ONE
PLoS ONE
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism. In the past, the majority of patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6766a89e26ed4fb78a9bb503d7ad66c2
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23028790/?tool=EBI
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23028790/?tool=EBI
Publikováno v:
Journal of inherited metabolic disease. 33
Inborn errors of urea metabolism result in hyperammonemia. Treatment of urea cycle disorders can effectively lower plasma ammonium levels and results in survival in the majority of patients. Available medications for treating urea cycle disorders inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da8f09747c4842d8147032fb6c025d3d
https://pubmed.ncbi.nlm.nih.gov/20694517
https://pubmed.ncbi.nlm.nih.gov/20694517
Autor:
Diran Herebian, Frank ter Veld, Ertan Mayatepek, Ulrike Haussmann, Martina Mueller, Simone Kramer, Sonja Primassin, Ute Spiekerkoetter, Maurice D. Laryea
Publikováno v:
PLoS ONE, Vol 4, Iss 7, p e6449 (2009)
PLoS ONE
PLoS ONE
Background Newborn screening for medium- and very long-chain acyl-CoA dehydrogenase (MCAD and VLCAD, respectively) deficiency, using acylcarnitine profiling with tandem mass spectrometry, has increased the number of patients with fatty acid oxidation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f34682a99e01c56f473e3b672747785e
http://europepmc.org/articles/PMC2715108?pdf=render
http://europepmc.org/articles/PMC2715108?pdf=render