Results 61 to 70 of about 5,529 (148)

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature

JIMD Reports, 2020
Background Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies.
Zhen Qian, Jef Van den Eynde, Stephane Heymans, Luc Mertens, Eva Morava   +4 more
doaj   +1 more source

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. [PDF]

Mol Genet Metab
Patient-centered outcomes, including patient-reported outcomes (PROs), are increasingly important in healthcare and research, though their use in rare diseases remains limited. In disorders with significant phenotypic variation, selecting appropriate outcome measures is crucial to ensuring the relevance of clinical trials for the patient population ...
Verberkmoes S, Mazza GL, Edmondson AC, Scaglia F, Horikoshi S, Kuschel B, Janssen MCH, Mousa J, Larson A, Shah R, McDonald G, Sarafoglou K, Berry G, Kozicz T, Lam C, Morava E.   +15 more
europepmc   +4 more sources

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Orphanet Journal of Rare Diseases, 2021
Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska   +6 more
doaj   +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

Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders

Çocuk Dergisi, 2023
Introduction: Congenital glycosylation defects (CDGs) manifest with multisystemic symptoms involving the immune, central nervous, endocrine, and musculoskeletal systems. A total of 137 distinct CDG types have been identified to date.
Sebile Kılavuz, Fatma Derya Bulut, Deniz Kor, Berna Şeker Yılmaz, Atıl Bişgin, Fadli Demir, Bahriye Atmış, Derya Alabaz, Neslihan Mungan, Mustafa Yılmaz   +9 more
doaj   +1 more source

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

Asociaciones de la expresión génica (transcriptoma)-fenotipo en pmm2-cdg [PDF]

, 2023
Los Defectos Congénitos de la Glicosilación (CDG) conforman una creciente familia de trastornos genéticos originados por fallos en los procesos celulares encargados de ensamblar, recortar y añadir glicanos a proteínas y lípidos.
Blázquez Martín, Ricardo
core  

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Cell Reports
Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz   +13 more
doaj   +1 more source

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source