Zobrazeno 91 - 100
of 176
pro vyhledávání: '"Jürgen G. Okun"'
Autor:
Stefan Pusch, Christian Thiede, Christel Herold-Mende, Claus Dieter Langhans, Jörg Balss, Wolfgang Buckel, Andreas von Deimling, Jürgen G. Okun, Ann Christin Beck, Alwin Krämer
Publikováno v:
Acta Neuropathologica. 124:883-891
Levels of (D)-2-hydroxyglutarate [D2HG, (R)-2-hydroxyglutarate] are increased in some metabolic diseases and in neoplasms with mutations in the isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) genes. Determination of D2HG is of
Autor:
Gert Fricker, Kathrin V. Schmidt, Sven F. Garbade, Vera Schuhmann, Wolfgang Stremmel, Jürgen G. Okun, Claus-Dieter Langhans, Frank Kratzer
Publikováno v:
PLoS ONE
PLoS ONE, Vol 12, Iss 1, p e0170742 (2017)
PLoS ONE, Vol 12, Iss 1, p e0170742 (2017)
Elevated serum trimethylamine-N-oxide (TMAO) was previously reported to be associated with an elevated risk for cardiovascular events. TMAO originates from the microbiota-dependent breakdown of food-derived phosphatidylcholine (PC) to trimethylamine
Autor:
Gwendolyn, Gramer, Ghassan, Abdoh, Tawfeg, Ben-Omran, Noora, Shahbeck, Rehab, Ali, Laila, Mahmoud, Junmin, Fang-Hoffmann, Georg F, Hoffmann, Hilal, Al Rifai, Jürgen G, Okun
Publikováno v:
World journal of pediatrics : WJP. 13(2)
Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-ß-synthase deficiency). Newborn screening for classical homocystinuria using total homocysteine m
Background In phenylketonuria (PKU) patients, the combination of two phenylalanine hydroxylase ( PAH ) alleles is the main determinant of residual enzyme activity in vivo and in vitro . Inconsistencies in genotype-phenotype correlations have been obs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234e63b121d95693e261c60f2ef63890
https://www.zora.uzh.ch/id/eprint/133292/
https://www.zora.uzh.ch/id/eprint/133292/
Autor:
Chuan-Chi Chiang, Georg F. Hoffmann, Ghassan Abdoh, Gisela Haege, Peter Burgard, Junmin Fang-Hoffmann, Abdul Latif Al Khal, Noora Shahbeck, Kathrin V. Schmidt, Hongying Gan-Schreier, Hilal Al Rifai, David C. Kasper, Bridget Wilcken, Tawfeq Ben-Omran, G. Gramer, Jürgen G. Okun
Publikováno v:
JIMD Reports ISBN: 9783662543849
Background: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier str
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95525df615ac1824c1ec6748f806d89c
https://doi.org/10.1007/8904_2016_556
https://doi.org/10.1007/8904_2016_556
Autor:
Jürgen G, Okun, Hongying, Gan-Schreier, Tawfeq, Ben-Omran, Kathrin V, Schmidt, Junmin, Fang-Hoffmann, Gwendolyn, Gramer, Ghassan, Abdoh, Noora, Shahbeck, Hilal, Al Rifai, Abdul Latif, Al Khal, Gisela, Haege, Chuan-Chi, Chiang, David C, Kasper, Bridget, Wilcken, Peter, Burgard, Georg F, Hoffmann
Publikováno v:
JIMD reports. 32
In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HC
Autor:
Gwendolyn Gramer, Lena Muckenthaler, Saida Awad, Martin Lindner, Thomas Bruckner, Martina U. Muckenthaler, Georg F. Hoffmann, Margit Happich, Joachim B. Kunz, Andreas E. Kulozik, Jürgen G. Okun
Publikováno v:
Annals of hematology. 95(3)
Children with sickle cell disease (SCD) benefit from newborn screening, because life-threatening complications can be prevented by pre-symptomatic diagnosis. In Germany, the immigration of people from endemic countries is steadily growing. Comprehens
Autor:
Arash Nickkholgh, Christian Thiel, Mohammad Reza Hafezi M, Sandra Weih, Patrick Günther, Jalal Arvin, Jürgen G. Okun, Mohammad Golriz, Kathrin V. Schmidt, Giovanni Frongia, Arianeb Mehrabi, Golnaz Emami, Camelia Garoussi, Markus Kessler, Arash Saffari, Esvad Aydin, Stefan Holland-Cunz, Maik Brune
Publikováno v:
Journal of investigative surgery : the official journal of the Academy of Surgical Research. 29(1)
Insufficient data are available to determine the most suitable extent of intestinal resection required to induce short-bowel syndrome (SBS) in pigs. This study aimed to compare the three main SBS-models published.A 75%, 90%, or 100% mid-intestinal re
Autor:
Wolfgang Stremmel, Sven W. Sauer, Uta Merle, Jürgen G. Okun, Georg F. Hoffmann, Silvana Opp, Dorothea Haas
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1812(12):1607-1615
Wilson disease (WD) is caused by mutations of the WD gene ATP7B resulting in copper accumulation in different tissues. WD patients display hepatic and neurological disease with yet poorly understood pathomechanisms. Therefore, we studied age-dependen
Publikováno v:
Monatsschrift Kinderheilkunde. 159:842-847
Die Glutarazidurie Typ I (OMIM #231670) ist eine autosomal-rezessiv vererbte Stoffwechselkrankheit, die mit einer geschatzten Pravalenz von ca. 1:110.000 Neugeborenen in Deutschland vorkommt. Mehr als 100 Patienten mit dieser seltenen Krankheit leben