Zobrazeno 1 - 2
of 2
pro vyhledávání: '"M. Schiebe-Sukumar"'
Autor:
Gordon Alton, H. K. Harms, K. Reiter, Klaus-Peter Zimmer, Martin Hasilik, Hans Georg Koch, Rongrong Wu, Erik Harms, Hudson H. Freeze, Christian Körner, M. Schiebe-Sukumar, Thorsten Marquardt, R. Niehues, K von Figura
Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cde2874d94fa8306d86e739d27978cc
https://europepmc.org/articles/PMC508719/
https://europepmc.org/articles/PMC508719/
Autor:
Niehues R; Klinik und Poliklinik für Kinderheilkunde, 48149 Münster, Germany., Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 1998 Apr 01; Vol. 101 (7), pp. 1414-20.
