| VAN SCHERPENZEEL, Monigue, Sharita TIMAL, Daisy RYMAN, Alexander HOISCHEN, Manfred WUHRER, Agnes HIPGRAVE-EDERVEEN, Stephanie GRUNEWALD, Romain PEANNE, Ann SAADA, Shimon EDVARDSON, Sabine GRONBORG, George RUITER, Anna KATTENTIDT-MOURAVIEVA, Jaime Moritz BRUM, Mary-Loise FRECKMANN, Susan TOMKINS, Anil JALAN, Dagmar PROCHÁZKOVÁ, Nina ONDRUŠKOVÁ, Hana HANSÍKOVÁ, Michael WILLEMSEN, Paul HENSBERGEN, Gert MATTHIJS, Ron WEWERS, Joris VELTMAN, Eva MORAVA a Dirk LEFEBER. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain. Oxford: Oxford University Press, 2014, roč. 137, č. 4, s. 1030-1038. ISSN 0006-8950. Dostupné z: https://dx.doi.org/10.1093/brain/awu019. |
Další formáty:
BibTeX
LaTeX
RIS
@article{1167457,
author = {Van Scherpenzeel, Monigue and Timal, Sharita and Ryman, Daisy and Hoischen, Alexander and Wuhrer, Manfred and HipgraveandEderveen, Agnes and Grunewald, Stephanie and Peanne, Romain and Saada, Ann and Edvardson, Shimon and Gronborg, Sabine and Ruiter, George and KattentidtandMouravieva, Anna and Brum, Jaime Moritz and Freckmann, MaryandLoise and Tomkins, Susan and Jalan, Anil and Procházková, Dagmar and Ondrušková, Nina and Hansíková, Hana and Willemsen, Michael and Hensbergen, Paul and Matthijs, Gert and Wewers, Ron and Veltman, Joris and Morava, Eva and Lefeber, Dirk},
article_location = {Oxford},
article_number = {4},
doi = {http://dx.doi.org/10.1093/brain/awu019},
keywords = {MAN1B1; intellectul disability; CDG; biomarker},
language = {eng},
issn = {0006-8950},
journal = {Brain},
title = {Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency},
url = {http://www.brain.oxfordjournals.com},
volume = {137},
year = {2014}
}
TY - JOUR
ID - 1167457
AU - Van Scherpenzeel, Monigue - Timal, Sharita - Ryman, Daisy - Hoischen, Alexander - Wuhrer, Manfred - Hipgrave-Ederveen, Agnes - Grunewald, Stephanie - Peanne, Romain - Saada, Ann - Edvardson, Shimon - Gronborg, Sabine - Ruiter, George - Kattentidt-Mouravieva, Anna - Brum, Jaime Moritz - Freckmann, Mary-Loise - Tomkins, Susan - Jalan, Anil - Procházková, Dagmar - Ondrušková, Nina - Hansíková, Hana - Willemsen, Michael - Hensbergen, Paul - Matthijs, Gert - Wewers, Ron - Veltman, Joris - Morava, Eva - Lefeber, Dirk
PY - 2014
TI - Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
JF - Brain
VL - 137
IS - 4
SP - 1030-1038
EP - 1030-1038
PB - Oxford University Press
SN - 00068950
KW - MAN1B1
KW - intellectul disability
KW - CDG
KW - biomarker
UR - http://www.brain.oxfordjournals.com
N2 - CDG comprise a group of genetic defects with a high frequency of intellectual disability, caused by deficient glykosylation of proteins and lipids. The molecular basis of the majority of the congenital disorders of glycosylation type I subtypes, localised in the cytosol and endoplasmic reticulum, has been solved. However, elucidation of causative genes for defective Golgi glycosylation remains challenging because of lack of sufficiently specific diagnostic serum methods. In a single patient with intellectual diaability, whole-exome sequencing revealed MAN1B1 as congenital disorder of glycosylation type II candidate gene.
ER -
VAN SCHERPENZEEL, Monigue, Sharita TIMAL, Daisy RYMAN, Alexander HOISCHEN, Manfred WUHRER, Agnes HIPGRAVE-EDERVEEN, Stephanie GRUNEWALD, Romain PEANNE, Ann SAADA, Shimon EDVARDSON, Sabine GRONBORG, George RUITER, Anna KATTENTIDT-MOURAVIEVA, Jaime Moritz BRUM, Mary-Loise FRECKMANN, Susan TOMKINS, Anil JALAN, Dagmar PROCHÁZKOVÁ, Nina ONDRUŠKOVÁ, Hana HANSÍKOVÁ, Michael WILLEMSEN, Paul HENSBERGEN, Gert MATTHIJS, Ron WEWERS, Joris VELTMAN, Eva MORAVA a Dirk LEFEBER. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. \textit{Brain}. Oxford: Oxford University Press, 2014, roč.~137, č.~4, s.~1030-1038. ISSN~0006-8950. Dostupné z: https://dx.doi.org/10.1093/brain/awu019.
|
