Cargando…

CDG – an update

Detalles Bibliográficos
Autores principales:	Morava, Eva, Lefeber, Dirk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2011
Materias:	Editorial
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137771/ https://www.ncbi.nlm.nih.gov/pubmed/21732094 http://dx.doi.org/10.1007/s10545-011-9366-9

Ejemplares similares

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

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
por: Witters, Peter, et al.
Publicado: (2017)

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)

Genotype-Phenotype Correlations in PMM2-CDG
por: Vaes, Laurien, et al.
Publicado: (2021)

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

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

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

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

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

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
por: Kapusta, Livia, et al.
Publicado: (2012)

Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants
por: Mousa, Jehan, et al.
Publicado: (2022)

PMM2‐CDG caused by uniparental disomy: Case report and literature review
por: Vaes, Laurien, et al.
Publicado: (2020)

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

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG
por: Ligezka, Anna N., et al.
Publicado: (2023)

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

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
por: Witters, Peter, et al.
Publicado: (2020)

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series
por: Radenkovic, Silvia, et al.
Publicado: (2023)

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
por: den Hollander, Bibiche, et al.
Publicado: (2021)

PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations
por: Starosta, Rodrigo Tzovenos, et al.
Publicado: (2023)

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

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

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

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

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
por: Al-Owain, Mohammed, et al.
Publicado: (2010)

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

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

L-Fucose treatment of FUT8-CDG
por: Park, Julien H., et al.
Publicado: (2020)

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

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

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

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

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

Drosophila models of PIGA-CDG mirror patient phenotypes
por: Thorpe, Holly J., et al.
Publicado: (2023)

Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
por: Salinas-Marín, Roberta, et al.
Publicado: (2022)

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

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

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

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

Neonatal presentation of COG6‐CDG with prominent skin phenotype
por: Komlosi, Katalin, et al.
Publicado: (2020)

Unsuccessful intravenous D-mannose treatment in PMM2-CDG
por: Grünert, Sarah C., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_7htgcqkq6253cb6rl7i6iup1gt