Results 61 to 70 of about 1,755 (160)

Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders

BMC Medical Genetics, 2019
Background PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG
Zhen Zhang, Ti-Long Huang, Jing Ma, Wen-Ji He, Huaiyu Gu   +4 more
doaj   +1 more source

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Two affected fetuses in a COG5‐CDG family exhibited fetal hydrops and skeletal malformations, which were found to segregate with the paternal frameshift variant c.1972del and the maternal splice‐site variant c.2168_2168+4delinsCATAAAA in the COG5 gene.
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Linlin Wang, Shang Yi, Zailong Qin, Jingsi Luo   +8 more
wiley   +1 more source

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni   +10 more
doaj   +1 more source

Tuning Optoelectronic Properties and Photoelectrochemical Performance of β‐TaON via Vanadium Doping

Small, Volume 22, Issue 21, 13 April 2026.
Vanadium‐doped β‐TaON is studied to elucidate how controlled cation substitution modulates crystal and electronic structures and photoelectrochemical performance. Moderate vanadium incorporation (<10 at.%) retains phase purity, narrows the bandgap, and improves charge transport, whereas excessive doping (>10 at.%) induces secondary phases that suppress
Mirabbos Hojamberdiev, Ronald Vargas, Lorean Madriz, Dilshod Nematov, Ulugbek Shaislamov, Hajime Wagata, Yuta Kubota, Kunio Yubuta, Katsuya Teshima, Nobuhiro Matsushita   +9 more
wiley   +1 more source

Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

Journal of Behçet Uz Children's Hospital, 2020
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of genetic diseases that lead to impairment in protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the number
Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp   +9 more
doaj   +1 more source

Polymorphism in Tetramethylammonium Selenocyanate – Crystal Structures of α‐, β‐, and γ‐[NMe4][SeCN]

Zeitschrift für anorganische und allgemeine Chemie, Volume 652, Issue 5, 18 March 2026.
This study reports the synthesis and crystallographic investigation of tetramethylammonium selenocyanate. The structures of α‐, β‐, and γ‐[NMe4][SeCN] are related to one another and also to the CsCl‐type. In the solid state, tetramethylammonium selenocyanate, [NMe4][SeCN], is polymorphic.
Sven Ringelband, Jonathan Pfeiffer, Hennes Günther, Sergei Ivlev, Frank Tambornino   +4 more
wiley   +1 more source

Congenital disorder of glycosilation PMM2-CDG

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2019
Congenital glycosylation disorders represent a group of genetically determined diseases which violate the synthesis and addition of glycans to glycoproteins and glycolipids, and also the synthesis of glycosylphosphatidyl inositol. The most common defects are the defects of protein N-glycosylation.
A. A. Kamalova, A. R. Shakirova, M. R. Shaydullina, L. D. Cheminava, L. B. Ganieva, A. N. Badretdinova, S. S. Saetov   +6 more
openaire   +2 more sources

Three families with mild PMM2‐CDG and normal cognitive development [PDF]

American Journal of Medical Genetics Part A, 2017
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2‐CDG is the most common subtype among the CDG. The severity of PMM2‐CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death.
Vals, M.A., Morava, E., Teeäär, K., Zordania, R., Pajusalu, S., Lefeber, D.J., Lefeber, D.J., Õunap, K.   +7 more
openaire   +3 more sources

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source