Congenital disorder of glycosilation PMM2-CDG

Congenital disorder of glycosilation PMM2-CDG

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. J...

Full description

Bibliographic Details
Main Authors:	A. A. Kamalova, A. R. Shakirova, M. R. Shaydullina, L. D. Cheminava, L. B. Ganieva, A. N. Badretdinova, S. S. Saetov
Format:	Article
Language:	Russian
Published:	Ltd. “The National Academy of Pediatric Science and Innovation” 2019-11-01
Series:	Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:	дети врожденные нарушения гликозилирования синдром жакена pmm2-cdg фосфоманномутаза 2 ген pmm2
Online Access:	https://www.ped-perinatology.ru/jour/article/view/996

Similar Items

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report
by: E. Lebredonchel, et al.
Published: (2022-10-01)

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
by: C.A. González-Domínguez, et al.
Published: (2020-12-01)

Genotype-Phenotype Correlations in PMM2-CDG
by: Laurien Vaes, et al.
Published: (2021-10-01)

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis
by: Lara Cirnigliaro, et al.
Published: (2024-02-01)

PMM2‐CDG caused by uniparental disomy: Case report and literature review
by: Laurien Vaes, et al.
Published: (2020-07-01)

PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India
by: N. Sreedevi, et al.
Published: (2023-06-01)

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
by: Roman Taday, et al.
Published: (2020-09-01)

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
by: Katerina Slaba, et al.
Published: (2020-10-01)

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
by: Peter Witters, et al.
Published: (2021-03-01)

Mannose supplementation in PMM2-CDG
by: Roman Taday, et al.
Published: (2021-08-01)

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence
by: Mercedes Serrano, et al.
Published: (2021-10-01)

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
by: Rita Francisco, et al.
Published: (2020-07-01)

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG
by: Sangeetha Iyer, et al.
Published: (2019-11-01)

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG)
by: M. Zhong, et al.
Published: (2024-03-01)

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
by: C. Pascoal, et al.
Published: (2022-10-01)

Hyperinsulinemic Hypoglycemia Due to <i>PMM2</i> Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease
by: Ratna Acharya, et al.
Published: (2022-10-01)

Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders
by: Zhen Zhang, et al.
Published: (2019-11-01)

The development of end stage renal disease in two patients with PMM2‐CDG
by: Henna Tiwary, et al.
Published: (2022-03-01)

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease
by: Ryan C Vignogna, et al.
Published: (2022-10-01)

Mental Workload Analysis of PMM Outbound Student Using Defence Research Agency Workload Scale (DRAWS) Method
by: Halwa Annisa Khoiri, et al.
Published: (2022-12-01)

P35 Comparaison de l’interaction moléculaire entre le Taxol@ et les nanoparticules à base de poly (alkyl méthylidène malonate) PMM 2.1.2 et à base de poly (alkylcynoacrylate)(PACA
by: Urbain C Kassehin, et al.
Published: (2023-12-01)

Dampak Pembelajaran Lintas Jurusan pada Program PMM-MBKM
by: Amar Jufri, et al.
Published: (2024-03-01)

Mental Workload Evaluation for PMM Outbound Student in X University (Unix) Using Nasa-TLX Method
by: Wildanul Isnaini, et al.
Published: (2022-04-01)

Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
by: Jessica P. Lao, et al.
Published: (2019-02-01)

The Implementation of Student Exchange Program in Higher Education: The Study in a University in Indonesia
by: Lodya Sesriyani, et al.
Published: (2022-09-01)

Panicle Morphology Mutant 1 (PMM1) determines the inflorescence architecture of rice by controlling brassinosteroid biosynthesis
by: Yan Li, et al.
Published: (2018-12-01)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
by: Hossein Moravej, et al.
Published: (2020-01-01)

Implementasi Project Minerva Model (PMM) dalam Peningkatan Kompetensi Praktik Kerja Batu dan Beton Berbasis Contextual Teaching Learning
by: Lilik Hariyanto
Published: (2010-10-01)

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review
by: Carlota Pascoal, et al.
Published: (2024-03-01)

Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination – A Case Report
by: Priya Prasher, et al.
Published: (2020-12-01)

Theoretical Evaluation of Sulfur-Based Reactions as a Model for Biological Antioxidant Defense
by: Maria Laura De Sciscio, et al.
Published: (2022-11-01)

PROGRAMA MAIS MÉDICOS E INDICADORES DA ATENÇÃO PRIMÁRIA À SAÚDE EM MINAS GERAIS (2013-2015)
by: Débora Gonzaga Martin, et al.
Published: (2020-09-01)

An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation
by: Max Frenkel, et al.
Published: (2023-12-01)

Effects of Environmental and Electric Perturbations on the pKa of Thioredoxin Cysteine 35: A Computational Study
by: Valeria D’Annibale, et al.
Published: (2022-09-01)

Development of a Numerical-Semi Empirical Model to Estimate Hydrodynamic Derivatives of an AUV
by: N.M. Nouri, et al.
Published: (2016-03-01)

An allelic variant of congenital Salih myopathy
by: M. S. Belenikin, et al.
Published: (2016-03-01)

PLATINUM METAL MINERALIZATION OF THE SOUTH URALS MAGMATIC COMPLEXES: GEOLOGICAL AND GEODYNAMIC CHARACTERISTICS OF FORMATIONS, PROBLEMS OF THEIR GENESIS, AND PROSPECTS
by: I. R. Rakhimov, et al.
Published: (2021-06-01)

Difficulties in the differential diagnosis of Angelman’s syndrome
by: Z. K. Gorchkhanova, et al.
Published: (2023-01-01)

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features
by: Kuerbanjiang Abuduxikuer, et al.
Published: (2021-05-01)

Elektromanyetik Kirlilik Seviyesinin Belirlenmesi: Ankara Örneği
by: Tülay Aygün, et al.
Published: (2018-04-01)