Cargando…

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

PURPOSE: We studied galactose supplementation in SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG), caused by mono-allelic pathogenic variants in SLC35A2 (Xp11.23), encoding the ER and Golgi UDP-galactose transporter. Patients present with epileptic encephalopathy, developmental disability,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Witters, Peter, Tahata, Shawn, Barone, Rita, Õunap, Katrin, Salvarinova, Ramona, Grønborg, Sabine, Hoganson, George, Scaglia, Fernando, Lewis, Andrea Margaret, Mori, Mari, Sykut-Cegielska, Jolanta, Edmondson, Andrew, He, Miao, Morava, Eva
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275909/ https://www.ncbi.nlm.nih.gov/pubmed/32103184 http://dx.doi.org/10.1038/s41436-020-0767-8

Ejemplares similares

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

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

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

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

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)

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

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

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

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features
por: Abuduxikuer, Kuerbanjiang, et al.
Publicado: (2021)

N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant
por: Kodríková, Rebeka, et al.
Publicado: (2023)

Clinical, molecular and glycophenotype insights in SLC39A8-CDG
por: Bonaventura, Eleonora, et al.
Publicado: (2021)

Cross-border healthcare? The Polish experience
por: Sykut-Cegielska, Jolanta
Publicado: (2010)

From the Editor-in-Chief
por: Sykut-Cegielska, Jolanta
Publicado: (2020)

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

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

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

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

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

Difficulties in The Dietary Management of a Girl with Two Diseases Requiring a Special Diet
por: Kowalik, Agnieszka, et al.
Publicado: (2018)

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
por: Kowalik, Agnieszka, et al.
Publicado: (2021)

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

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

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)

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

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

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report
por: Westenfield, Kristen, et al.
Publicado: (2018)

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

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)

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2020)

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report
por: Bekiesinska-Figatowska, Monika, et al.
Publicado: (2021)

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)

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up
por: Starosta, Rodrigo Tzovenos, et al.
Publicado: (2021)

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

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
por: Marquardt, Thorsten, et al.
Publicado: (2020)

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)

The genetic basis of classical galactosaemia in Polish patients
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2021)

SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption
por: Hoşnut, Ferda Ö., et al.
Publicado: (2023)

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy
por: Donoghue, Sarah E., et al.
Publicado: (2020)

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

Cannot write session to /tmp/vufind_sessions/sess_pmpti2g4gpqru6h87pg527bum9