Results 111 to 120 of about 3,013 (227)

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

SLC35A2â CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals [PDF]

, 2019
Pathogenic de novo variants in the Xâ linked gene SLC35A2 encoding the major Golgiâ localized UDPâ galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2â ...
Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A., Barone, Rita, Botto, Lorenzo D., Burton, Jennifer E., Carlston, Colleen, Chung, Brian Hon‐yin, Cohen, Julie S., Coman, David, Dipple, Katrina M., Dobyns, William B., Dorrani, Naghmeh, Edmondson, Andrew C., Elias, Abdallah F., Epstein, Leon, Freeze, Hudson H., Gahl, William A., Garozzo, Domenico, Grunewald, Stephanie, Guillen Sacoto, Maria J., Hammer, Trine Bjørg, Haven, Jaclyn, Herzog, Matthew, Hoganson, George E., Hunter, Jesse M., Héron, Delphine, Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher C.Y., McKnight, Dianalee, Mendelsohn, Bryce A., Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F., Ng, Bobby G., Olczak, Mariusz, Palmer, Christina G.S., Partikian, Arthur, Patterson, Marc C., Pierson, Tyler M., Powis, Zöe, Quinonez, Shane C., Regan, Brigid M., Rosenfeld, Jill A., Ross, M. Elizabeth, Scaglia, Fernando, Scheffer, Ingrid E., Segal, Devorah, Singhal, Nilika Shah, Sosicka, Paulina, Striano, Pasquale, Sturiale, Luisa, Suchy, Sharon F., Symonds, Joseph D., Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A., Yang, Hui, Yano, Shoji   +68 more
core   +2 more sources

Glycan Engineering for Cell and Developmental Biology [PDF]

, 2016
Cell-surface glycans are a diverse class of macromolecules that participate in many key biological processes, including cell-cell communication, development, and disease progression.
Griffin, Matthew E., Hsieh-Wilson, Linda C.   +1 more
core   +1 more source

A Case of Infantile Achalasia in Alacrima–Achalasia–Mental Retardation Syndrome: A Rare and Complex Association [PDF]

Journal of Clinical and Diagnostic Research
Alacrima-Achalasia-Mental Retardation (AAMR) syndrome, also known as GDP-Mannose Pyrophosphorylase A (GMPPA) Congenital Disorder of Glycosylation (GMPPA-CDG), is a rre autosomal recessive condition characterised by alacrima, achalasia, and intellectual ...
Apoorva Makan, Ritika Gupta, Pranav Jadhav, Aniruddha Bhagwat, Dhananjay Vaze   +4 more
doaj   +1 more source

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy [PDF]

, 2017
published_or_final_versio
Fung, CW, Kwong, KY, Wong, CNV
core   +1 more source

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

Molecular Genetics and Metabolism Reports
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia.
Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma   +10 more
doaj   +1 more source

A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis

Frontiers in Genetics
IntroductionCongenital disorders of glycosylation (CDG) refer to monogenetic diseases characterized by defective glycosylation of proteins or lipids causing multi-organ disorders.
Wenqiang Sun, Xinyun Jin, Xueping Zhu
doaj   +1 more source

Human plasma N-glycome stability [PDF]

, 2010
N-glikani su šećerne komponente glikoproteina čije su biološke funkcije za organizam vrlo važne te ponekad i esencijalne. Kod raznih bolesti (tumori, urođeni poremećaji glikozilacije, upalne bolesti) i stanja (alkoholizam), strukture glikana mogu biti ...
Mavrinac, Marina
core   +1 more source

Editorial: Inherited Protein Glycosylation Defects in Humans

Frontiers in Genetics, 2022
Aleksandra Jezela-Stanek, Karolina M. Stepien, Anna Tylki-Szymanska   +2 more
doaj   +1 more source

ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis [PDF]

, 2017
N-linked protein glycosylation follows a conserved pathway in eukaryotic cells. The assembly of the lipid-linked core oligosaccharide Glc3Man9GlcNAc2, the substrate for the oligosaccharyltransferase (OST), is catalyzed by different glycosyltransferases ...
Aebi, Markus, Frank, Christian G.
core