Cargando…

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosylation) usually represent multisystem (especially neurovisceral) diseases with liver involvement reported in some of them. The aim of the study was to characterize the liver phenotype in CDG...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lipiński, Patryk, Bogdańska, Anna, Socha, Piotr, Tylki-Szymańska, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8286991/ https://www.ncbi.nlm.nih.gov/pubmed/34291020 http://dx.doi.org/10.3389/fped.2021.696918

Ejemplares similares

Pediatric Liver Disease Patients and Secondary Glycosylation Abnormalities
por: Bogdańska, Anna, et al.
Publicado: (2021)

Congenital Disorders of Glycosylation: What Clinicians Need to Know?
por: Lipiński, Patryk, et al.
Publicado: (2021)

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population
por: Lipiński, Patryk, et al.
Publicado: (2021)

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up
por: Bogdańska, Anna, et al.
Publicado: (2021)

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review
por: Lipiński, Patryk, et al.
Publicado: (2021)

Anthropometric Phenotype of Patients with PMM2-CDG
por: Lipiński, Patryk, et al.
Publicado: (2021)

Congenital Disorders of Glycosylation from a Neurological Perspective
por: Paprocka, Justyna, et al.
Publicado: (2021)

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm
por: Lipiński, Patryk, et al.
Publicado: (2020)

ATP6AP1‐CDG: Follow‐up and female phenotype
por: Lipiński, Patryk, et al.
Publicado: (2020)

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease
por: Wicher, Dorota, et al.
Publicado: (2019)

Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights
por: Lipiński, Patryk, et al.
Publicado: (2022)

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders—Single-Center Experience
por: Lipiński, Patryk, et al.
Publicado: (2020)

NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy
por: Lipiński, Patryk, et al.
Publicado: (2021)

Deficyt Aktywności Transaldolazy – Obraz Kliniczny, Patogeneza, Diagnostyka
por: Lipiński, Patryk, et al.
Publicado: (2018)

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience
por: Szymańska, Edyta, et al.
Publicado: (2020)

NGLY1 deficiency—A rare congenital disorder of deglycosylation
por: Lipari Pinto, Patrícia, et al.
Publicado: (2020)

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature
por: Lipiński, Patryk, et al.
Publicado: (2021)

Editorial: Inherited Protein Glycosylation Defects in Humans
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2022)

A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach
por: Szymańska-Rożek, Paulina, et al.
Publicado: (2023)

Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review
por: Lu, Siliang, et al.
Publicado: (2023)

Progressive macrophage accumulation in lysosomal acid lipase deficiency
por: Lipiński, Patryk, et al.
Publicado: (2020)

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG
por: Mitusińska, Karolina, et al.
Publicado: (2022)

Editorial: The broader aspects of non-alcoholic fatty liver disease in children
por: Mandato, Claudia, et al.
Publicado: (2022)

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology
por: Pandey, Ashutosh, et al.
Publicado: (2022)

Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation
por: Miao, Xiangguang, et al.
Publicado: (2022)

Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy
por: Dubiela, Paweł, et al.
Publicado: (2023)

Long-term outcome of patients with alpha-mannosidosis – A single center study
por: Lipiński, Patryk, et al.
Publicado: (2021)

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up
por: Lipiński, Patryk, et al.
Publicado: (2019)

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria
por: Szymańska, Edyta, et al.
Publicado: (2020)

Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease
por: Hülsmeier, Andreas J., et al.
Publicado: (2016)

Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases
por: Pokora, Paulina, et al.
Publicado: (2018)

Involvement of Synaptic Genes in the Pathogenesis of Autism Spectrum Disorders: The Case of Synapsins
por: Giovedí, Silvia, et al.
Publicado: (2014)

The N-glycan Glycoprotein Deglycosylation Complex (Gpd) from Capnocytophaga canimorsus Deglycosylates Human IgG
por: Renzi, Francesco, et al.
Publicado: (2011)

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation
por: Ge, Haixia, et al.
Publicado: (2020)

The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant
por: Paprocka, Justyna, et al.
Publicado: (2021)

Crystal structure of deglycosylated human IgG4-Fc
por: Davies, Anna M., et al.
Publicado: (2014)

Correction: The N-glycan Glycoprotein Deglycosylation Complex (Gpd) from Capnocytophaga canimorsus Deglycosylates Human IgG
por: Renzi, Francesco, et al.
Publicado: (2015)

Congenital Hypofibrinogenemia: Presentation of a Rare Coagulation Disorder
por: Acevedo Viales, Karol, et al.
Publicado: (2020)

Treatment Options in Congenital Disorders of Glycosylation
por: Park, Julien H., et al.
Publicado: (2021)

Insights into complexity of congenital disorders of glycosylation
por: Goreta, Sandra Supraha, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_0noj1vfn84ivjm4kit0hf0qatv