Results 61 to 70 of about 7,768 (132)

Action Spectroscopy of Mass‐Selected Ions—From Principles to Applications

Journal of Mass Spectrometry, Volume 61, Issue 10, October 2026.
ABSTRACT Gas‐phase ion spectroscopy provides direct, structure‐sensitive information that complements and extends conventional mass spectrometry workflows, offering structural resolution that accurate mass and fragmentation patterns alone cannot always achieve by themselves.
Pedro Henrique Martins Garcia, Gustavo Cervi, Cesar Augusto Gonçalves Dantas, Guilherme Obeid, Thiago C. Correra   +4 more
wiley   +1 more source

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

JIMD Reports, 2020
MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms.
Tawhida Y. Abdel Ghaffar, Bobby G. Ng, Solaf M. Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H. Freeze   +7 more
doaj   +1 more source

Pericerebral spaces as diagnostic signposts in fetal central nervous system pathologies

Ultrasound in Obstetrics &Gynecology, EarlyView.
L. Guibaud, S. Cabet
wiley   +1 more source

Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review

Orphanet Journal of Rare Diseases
Glycosylation is a post-translational modification of proteins that involves the addition of glycan groups and is essential for their proper functionality. This highly complex process affects 70% of all human proteins.
N. Gandoy-Fieiras, M. I. Quiroga, L. Sánchez   +2 more
doaj   +1 more source

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

JA Clinical Reports, 2017
Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage   +3 more
doaj   +1 more source

ALG1-congenital disorder of glycosylation: report of clinical and genetic features of three new cases and review of literature

Egyptian Journal of Medical Human Genetics
Background The ALG1-congenital disorder of glycosylation condition is a rare autosomal recessive disorder with approximately 80 patients reported worldwide up to now.
Faeze Khaghani, Nafiseh Pourbadakhshan, Ehsan Ghayoor Karimiani, Farah Ashrafzadeh, Peyman Eshraghi   +4 more
doaj   +1 more source

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

JCI Insight
As a major component of intracellular trafficking, the coat protein complex II (COPII) is indispensable for cellular function during embryonic development and throughout life.
Nina Bögershausen, Büsranur Cavdarli, Taylor H. Nagai, Miroslav P. Milev, Alexander Wolff, Mahsa Mehranfar, Julia Schmidt, Dharmendra Choudhary, Óscar Gutiérrez-Gutiérrez, Lukas Cyganek, Djenann Saint-Dic, Arne Zibat, Karl Köhrer, Tassilo E. Wollenweber, Dagmar Wieczorek, Janine Altmüller, Tatiana Borodina, Dilek Kaçar, Göknur Haliloğlu, Yun Li, Christian Thiel, Michael Sacher, Ela W. Knapik, Gökhan Yigit, Bernd Wollnik   +24 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker

Frontiers in Genetics
This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α1,3 ...
Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E. Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa   +10 more
doaj   +1 more source

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG

Biomolecules
STT3A encodes the catalytic subunit of the oligosaccharyltransferase A (OST-A) complex and is classically linked to severe autosomal-recessive congenital disorder of glycosylation (CDG). To define the distinct autosomal-dominant disorder, we reviewed all
Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, Georgia MacDonald, Yutaka Furuta, Daniel Schecter, Andrew C. Edmondson, Anne McRae, Josh Baker, Eva Morava, Rory J. Tinker   +10 more
doaj   +1 more source