Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Martin Stucki"'
Publikováno v:
Transfusion. 57(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d7b5f5c90fcfa23aa1cf55f282cceba8
https://pubmed.ncbi.nlm.nih.gov/27731495
https://pubmed.ncbi.nlm.nih.gov/27731495
Autor:
Isabelle R. Miousse, Jaeseung C. Kim, David Watkins, Wolfgang Höhne, Marcel du Moulin, David Coelho, Matthias R. Baumgartner, Marzia Pasquali, Michele Frapolli, Terttu Suormala, Martin Stucki, Peter Nürnberg, David S. Rosenblatt, Insa Buers, Frank Rutsch, Eugen Mengel, Horst Robenek, Patricie Burda, Nicola Longo, Holger Thiele, Eric A. Shoubridge, Brian Fowler, Jacek Majewski, Stephen Fung
Publikováno v:
Nature genetics
Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to rel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b0b7f28c5347a70a8925a1ed2f50e91
https://doi.org/10.1038/ng.2386
https://doi.org/10.1038/ng.2386
Publikováno v:
Transfusion. 57:720-721
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69bbb1bb39bc1117bf5818539c3af8d1
https://doi.org/10.1111/trf.14038
https://doi.org/10.1111/trf.14038
Autor:
Martin Stucki, Matthias R. Baumgartner, Terttu Suormala, Patricie Burda, Brian Fowler, David Coelho
Publikováno v:
Human molecular genetics
The cblD defect of intracellular vitamin B(12) metabolism can lead to isolated methylmalonic aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and homocystinuria (cblD-MMA/HC). We studied the mechanism whereby MMADHC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002eed4e0052d56d610f1d218f5b24d3
https://doi.org/10.1093/hmg/ddr579
https://doi.org/10.1093/hmg/ddr579
Publikováno v:
Journal of Biological Chemistry. 284:28953-28957
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism. MCC is a heteromeric mitochondrial enzyme composed of biotin-containing α (MCCA) and smaller β (MCCB) subunits encoded by MCCA and MCCB, res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de24c3da0138f373040a6219dfbf17af
https://doi.org/10.1074/jbc.m109.050674
https://doi.org/10.1074/jbc.m109.050674
Autor:
David Coelho, Chantal F. Morel, Junhui Liu, Brian Fowler, Martin Stucki, Natascia Anastasio, Terttu Suormala, Amanda D. Loewy, Scott Gurd, Jordan P. Lerner-Ellis, Matthias R. Baumgartner, Tomi Pastinen, David Watkins, David S. Rosenblatt, Elin Grundberg
Publikováno v:
Human Mutation. 30:1072-1081
Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular vitamin B(12) (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. MMACHC was sequenced from the gDNA of 118 cblC individuals. Eleven novel muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a92aa210ba18fa32c6743cfeef1c31
https://doi.org/10.1002/humu.21001
https://doi.org/10.1002/humu.21001
Autor:
Albrecht Gröner, Wolfram Schäfer, Thomas Hostettler, Christoph Kempf, Nicola Boschetti, Martin Stucki, Fabian Käsermann, Thomas Nowak
Publikováno v:
Biologicals. 36:239-247
A highly purified, liquid, 10% immunoglobulin product stabilized with proline, referred to as IgPro10 has recently been developed. IgG was purified from human plasma by cold ethanol fractionation, octanoic acid precipitation and anion-exchange chroma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe6c0ce43c2446f3db52222267c87a1f
https://doi.org/10.1016/j.biologicals.2008.01.004
https://doi.org/10.1016/j.biologicals.2008.01.004
Autor:
Boris Görg, Noora Shahbeck, Khalid Ibrahim, Johannes Häberle, Tawfeg Ben-Omran, Dieter Häussinger, Martin Stucki, Liyan Hu, W. Todd Penberthy, Farrukh A. Chaudhry, Michele Frapolli
Publikováno v:
Journal of inherited metabolic disease. 38(6)
Glutamine synthetase (GS) deficiency is an ultra-rare inborn error of amino acid metabolism that has been described in only three patients so far. The disease is characterized by neonatal onset of severe encephalopathy, low levels of glutamine in blo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8d51f05cc8aac2d5ef4189ba645501
https://pubmed.ncbi.nlm.nih.gov/25896882
https://pubmed.ncbi.nlm.nih.gov/25896882