Cargando…

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia) and so is its natural course. It is characterized b...

Descripción completa

Detalles Bibliográficos
Autores principales:	Al-Owain, Mohammed, Mohamed, Sarar, Kaya, Namik, Zagal, Ahmad, Matthijs, Gert, Jaeken, Jaak
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2010
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861021/ https://www.ncbi.nlm.nih.gov/pubmed/20398363 http://dx.doi.org/10.1186/1750-1172-5-7

Ejemplares similares

ALG11-CDG: Three novel mutations and further characterization of the phenotype
por: Regal, L., et al.
Publicado: (2014)

Clinical and Molecular Characterization of ALG1-CDG
por: Dhamija, Radhika, et al.
Publicado: (2016)

PMM2‐CDG and nephrotic syndrome: A case report
por: Banderali, Giuseppe, et al.
Publicado: (2022)

ALG8-CDG: novel patients and review of the literature
por: Höck, Michaela, et al.
Publicado: (2015)

COG5-CDG: expanding the clinical spectrum
por: Rymen, Daisy, et al.
Publicado: (2012)

COG6‐CDG: Novel variants and novel malformation
por: Cirnigliaro, Lara, et al.
Publicado: (2022)

SLC35A2-CDG: Novel variant and review
por: Quelhas, Dulce, et al.
Publicado: (2021)

Correction: COG5-CDG: expanding the clinical spectrum
por: Rymen, Daisy, et al.
Publicado: (2013)

ALG9-CDG: New clinical case and review of the literature
por: Davis, Kellie, et al.
Publicado: (2017)

CDG Therapies: From Bench to Bedside
por: Brasil, Sandra, et al.
Publicado: (2018)

SLC37A4‐CDG: Second patient
por: Wilson, Matthew P., et al.
Publicado: (2021)

How to find and diagnose a CDG due to defective N-glycosylation
por: Lefeber, Dirk J., et al.
Publicado: (2011)

Congenital disorders of glycosylation (CDG): state of the art in 2022
por: Francisco, Rita, et al.
Publicado: (2023)

MAN1B1 Deficiency: An Unexpected CDG-II
por: Rymen, Daisy, et al.
Publicado: (2013)

CDG – an update
por: Morava, Eva, et al.
Publicado: (2011)

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG)
por: Altassan, Ruqaiah, et al.
Publicado: (2022)

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)

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
por: Murali, Chaya, et al.
Publicado: (2014)

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
por: Farolfi, Martina, et al.
Publicado: (2021)

A Case of ALG6-CDG with Explosive Onset of Intractable Epilepsy During Infancy
por: Clark, Daniel James, et al.
Publicado: (2023)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
por: Moravej, Hossein, et al.
Publicado: (2019)

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
por: Wilson, Matthew P, et al.
Publicado: (2022)

Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)
por: Brasil, Sandra, et al.
Publicado: (2022)

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
por: Pettinato, Fabio, et al.
Publicado: (2021)

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
por: de la Morena‐Barrio, María Eugenia, et al.
Publicado: (2020)

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG
por: Wong, Sunnie Yan-Wai, et al.
Publicado: (2017)

SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype
por: Kamarus Jaman, Nazreen, et al.
Publicado: (2021)

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
por: Serrano, Mercedes, et al.
Publicado: (2015)

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years
por: Van Hees, Ines, et al.
Publicado: (2019)

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
por: García-López, Roberto, et al.
Publicado: (2016)

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
por: González-Domínguez, Carlos Alberto, et al.
Publicado: (2021)

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
por: de la Morena-Barrio, Maria E, et al.
Publicado: (2013)

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
por: García-López, Roberto, et al.
Publicado: (2016)

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

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
por: González-Domínguez, Carlos Alberto, et al.
Publicado: (2021)

Mannose supplementation in PMM2-CDG
por: Taday, Roman, et al.
Publicado: (2021)

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

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
por: Achouitar, Samira, et al.
Publicado: (2011)

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
por: Witters, Peter, et al.
Publicado: (2021)

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

Cannot write session to /tmp/vufind_sessions/sess_0uou1u4cfm7muiv432cgra5hdr