Results 71 to 80 of about 7,542 (179)

Hyperkinetic movement disorders in congenital disorders of glycosylation

European Journal of Neurology, 2019
Background and purposeCongenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate
Mostile G., Barone R., Nicoletti A., Rizzo R., Martinelli D., Sturiale L., Fiumara A., Jankovic J., Zappia M.   +8 more
openaire   +5 more sources

Expanding the Genotypic Spectrum of POMGNT1‐Related Muscle‐Eye‐Brain Disease: A Case Report

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Compound heterozygous variants in the POMGNT1 gene expand the genotypic spectrum of Muscle‐Eye‐Brain disease, highlighting severe epilepsy with status epilepticus. Despite long disease duration, seizure freedom was achieved with intensive antiseizure polytherapy, underscoring the importance of continued therapeutic optimization in dystroglycanopathies.
Evripidis Pityrigkas, Vasiliki Poulidou, Stefania Kalampokini, Eleni Liouta, Georgia Pepe, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State‐Wide Diagnostic Service

Alcohol, Clinical and Experimental Research, Volume 50, Issue 8, August 2026.
Of 175 Australian children with fetal alcohol spectrum disorder (FASD), 90% had genetic testing, and of those, 24% had a rare copy number variant (CNV). Genetic testing supports the FASD diagnostic process and may reveal additional diagnoses or sources of genetic vulnerability to FASD.
Suzy Byrnes, Felicity Collins, Elizabeth Elliott   +2 more
wiley   +1 more source

Living Microbial Drugs

Chemistry – A European Journal, Volume 32, Issue 26, 11 July 2026.
The introduction outlines the review scope. Microbial cell factories as living drugs cover host–gut microbiota, bacteria, yeast, and other microbial systems, with comparative host advantages. Engineering strategies include synthetic circuits, quorum sensing, and memory.
Cemile Elif Özçelik, Nazlıcan Tunç, Senem Şen, Urartu Özgür Şafak Şeker   +3 more
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

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

Molecular Genetics and Metabolism Reports, 2014
Patients with ARCL-IIA harbor mutations in ATP6V0A2 that codes for an organelle proton pump. The ARCL-IIA syndrome characteristically presents a combined glycosylation defect affecting N-linked and O-linked glycosylations, differentiating it from other ...
D. Bahena-Bahena, J. López-Valdez, K. Raymond, R. Salinas-Marín, A. Ortega-García, B.G. Ng, H.H. Freeze, M. Ruíz-García, I. Martínez-Duncker   +8 more
doaj   +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