Results 51 to 60 of about 5,529 (148)

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

Cerebellum, 2021
We aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disorder of glycosylation.
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   +2 more sources

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? [PDF]

Molecular Genetics and Metabolism, 2021
Rita Barone, Eva Morava, Manuel Schiff
exaly   +2 more sources

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG. [PDF]

Mol Genet Metab
Background: Growth faltering is prevalent in 96% of children with Phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). Published long-term growth data is extremely limited.
Sarafoglou K, Lam C, Edmondson AC, Miller A, Starosta RT, Zeighami A, Horikoshi S, Vreugdenhil H, Scaglia F, Kozicz T, Tan QKG, Miller BS, Martínez-Duncker I, Berry GT, McWilliams P, Morava E, Addo Y.   +16 more
europepmc   +2 more sources

Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation

Frontiers in Immunology, 2022
Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans.
Paola de Haas, Marien I. de Jonge, Hans J. P. M. Koenen, Ben Joosten, Mirian C. H. Janssen, Mirian C. H. Janssen, Lonneke de Boer, Wiljan J. A. J. Hendriks, Dirk J. Lefeber, Dirk J. Lefeber, Alessandra Cambi   +10 more
doaj   +1 more source

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Molecular Genetics and Metabolism Reports, 2021
Introduction: The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in ...
Patryk Lipiński, Anna Bogdańska, Anna Tylki-Szymańska   +2 more
doaj   +1 more source

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

JCRPE, 2022
INTRODUCTION: Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with a wide clinical spectrum. Hypoglycemia is rarely reported in PMM2-CDG.
Doğuş Vurallı, Yılmaz Yıldız, Alev Ozon, Ali Dursun, Nazlı Gönç, Ayşegül Tokatlı, H. Serap Sivri, Ayfer Alikaşifoğlu   +7 more
doaj   +1 more source

Data of ESI-QTOF mass spectrum of PMM2-CDG

, 2022
Text data of Fig. 5. ESI-QTOF mass spectrum of PMM2-CDG. (A) The multiply-charged ions of three transferrin isoforms are completely overlapped at m/z 2,211.
Yoshinao Wada (12201750), Nobuhiko Okamoto (12201753)   +1 more
core   +1 more source

Expanding the Spectrum of PMM2-CDG Phenotype [PDF]

, 2011
Congenital Disorders of Glycosylation (CDG) are a group of recently described inborn errors of metabolism affecting glycosylation. CDG are disorders that have been reported with a great variability in the clinical presentation, especially for the most common PMM2-CDG.
Sandrine, Vuillaumier-Barrot, Bertrand, Isidor, Thierry, Dupré, Christiane, Le Bizec, Albert, David, Nathalie, Seta   +5 more
openaire   +2 more sources

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. [PDF]

Hum Mutat
We report on the largest single dataset of patients with PMM2‐CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studies, report on novel findings, and, additionally, examine potential genotype/phenotype correlations.
Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Õunap K.   +24 more
europepmc   +7 more sources

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein [PDF]

, 2016
© 2015 WILEY PERIODICALS, INC.. Congenital disorder of glycosylation type Ia (PMM2-CDG), the most common form of CDG, is caused by mutations in the PMM2 gene that reduce phosphomannomutase 2 (PMM2) activity. No curative treatment is available.
Pérez, Belén, Ugarte, Magdalena, Brasil, Sandra, Desviat, Lourdes R., Gámez, Alejandra, Yuste-Checa, Patricia, Pérez-Cerdá, Celia   +6 more
core   +1 more source