Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Martin Hasilik"'
Autor:
Markus Schwarz, Kurt von Figura, Ulrike Grieben, Martin Hasilik, Christian Körner, Christian Thiel, Folker Hanefeld, Ludwig Lehle
Publikováno v:
Biochemical Journal. 367:195-201
Deficiency of the endoplasmic reticulum enzyme dolichyl-phosphate mannose (Dol-P-Man):Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase leads to a new type of congenital disorder of glycosylation, designated type Ig. The patient 1 presented with a mult
Autor:
Gordon Alton, James R. Etchison, Martin Hasilik, K. Panneerselvam, Ralf Niehues, Fariba Fana, Hudson H. Freeze
Publikováno v:
Glycobiology. 8:285-295
Direct utilization of mannose for glycoprotein biosynthesis has not been studied because cellular mannose is assumed to be derived entirely from glucose. However, animal sera contain sufficient mannose to force uptake through glucose-tolerant, mannos
Autor:
Thomas Braulke, Markus Schwarz, Christian Körner, Jianhe Peng, Kurt von Figura, Alfried Kohlschütter, Michal Grzmil, Ludwig Lehle, Christian Thiel, Martin Hasilik
Publikováno v:
The Journal of biological chemistry. 278(25)
Deficiency of GDP-Man:Man1GlcNAc2-PP-dolichol mannosyltransferase (hALG2), is the cause of a new type of congenital disorders of glycosylation (CDG) designated CDG-Ii. The patient presented normal at birth but developed in the 1st year of life a mult
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:
Martin Hasilik, Klaus-Peter Zimmer, Hudson H. Freeze, Thorsten Marquardt, H. K. Harms, K. Reiter, R. M. Bertele-Harms, K. Auberger, S. Weidinger, R. Niehues
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 26:547