Results 81 to 90 of about 784 (133)

Genetic counseling for congenital disorders of glycosylation (CDG)

Journal of Genetic Counseling, Volume 33, Issue 6, Page 1358-1364, December 2024.
Abstract Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel, Lynne Wolfe, Ellen F. Macnamara   +2 more
wiley   +1 more source

rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia ( Deficiency)

Journal of Investigative Medicine High Impact Case Reports, 2013
Background . Congenital disorders of glycosylation (CDG) are a group of rare disorders in which glycosylation required for proper protein-protein interactions and protein stability is disrupted, manifesting clinically with multiple system involvement and
Bradley S. Miller MD, PhD, Meghann M. Duffy MD, O. Yaw Addo PhD, Kyriakie Sarafoglou MD   +3 more
doaj   +1 more source

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

Neuropediatrics, 2018
Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and clarity of speech with two items.
Debora Coritza Itzep Perez, Martinez-Monseny T, Bolasell M, Cuadras-Palleja D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M   +8 more
openaire   +4 more sources

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. [PDF]

Mol Genet Metab, 2023
Hong X, Edmondson AC, Strong A, Pomerantz D, Michl E, Berry G, He M.   +6 more
europepmc   +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

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review

Frontiers in Immunology
Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response.
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Rita Francisco, Rita Francisco, Rita Francisco, Patrícia Mexia, Patrícia Mexia, Patrícia Mexia, Beatriz Luís Pereira, Beatriz Luís Pereira, Beatriz Luís Pereira, Pedro Granjo, Pedro Granjo, Pedro Granjo, Helena Coelho, Helena Coelho, Mariana Barbosa, Mariana Barbosa, Mariana Barbosa, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula Alexandra Videira, Paula Alexandra Videira, Paula Alexandra Videira   +25 more
doaj   +1 more source

PMM2-CDG [PDF]

, 2020
openaire   +1 more source

In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1

Molecules
Phosphomannomutase 2 (PMM2) catalyzes the interconversion of mannose-6-phosphate and mannose-1-phosphate, a key step in the biosynthesis of GDP-mannose for N-glycosylation. Its deficiency is the most common cause of congenital disorders of glycosylation (
Bruno Hay Mele, Jessica Bovenzi, Giuseppina Andreotti, Maria Vittoria Cubellis, Maria Monticelli   +4 more
doaj   +1 more source

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence. [PDF]

Front Pediatr, 2021
Serrano M.
europepmc   +1 more source

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG). [PDF]

Cerebellum, 2021
Pettinato F, Mostile G, Battini R, Martinelli D, Madeo A, Biamino E, Frattini D, Garozzo D, Gasperini S, Parini R, Sirchia F, Sortino G, Sturiale L, Matthijs G, Morrone A, Di Rocco M, Rizzo R, Jaeken J, Fiumara A, Barone R.   +19 more
europepmc   +1 more source