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About 10 results

ALLMedicine™ Alg6-cdg Center

Research & Reviews  5 results

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: ...
https://doi.org/10.1016/j.ejmg.2020.103941
European Journal of Medical Genetics; Starosta RT, Tarnowski J et. al.

May 14th, 2020 - Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant syndrome of developmental delay, cortical vision loss with optic nerve atrophy, epilepsy, and autism spectrum disorder. Due to its many overlapping fe...

ALG6-CDG (CDG-Ic)
https://rarediseases.info.nih.gov/diseases/9829/alg6-cdg-cdg-ic

Jun 30th, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79320 Definition A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and ...
https://doi.org/10.1007/s10545-016-9945-x
Journal of Inherited Metabolic Disease; Morava E, Tiemes V et. al.

Jun 11th, 2016 - Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. Base...

Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3265770
Genetic Testing and Molecular Biomarkers; Goreta SS, Dabelic S et. al.

Sep 8th, 2011 - The congenital disorder of glycosylation (CDG)-Ic (ALG6-CDG, CDG-Ic) is caused by mutations in the hALG6 gene that encodes the N-glycosylation pathway enzyme, α-1,3-glucosyltransferase (NP_037471.2). The aim of our study was to estimate the freque...

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a cas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861021
Orphanet Journal of Rare Diseases; Al-Owain M, Mohamed S et. al.

Apr 19th, 2010 - 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...

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Clinicaltrials.gov  5 results

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: ...
https://doi.org/10.1016/j.ejmg.2020.103941
European Journal of Medical Genetics; Starosta RT, Tarnowski J et. al.

May 14th, 2020 - Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant syndrome of developmental delay, cortical vision loss with optic nerve atrophy, epilepsy, and autism spectrum disorder. Due to its many overlapping fe...

ALG6-CDG (CDG-Ic)
https://rarediseases.info.nih.gov/diseases/9829/alg6-cdg-cdg-ic

Jun 30th, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79320 Definition A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-...

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and ...
https://doi.org/10.1007/s10545-016-9945-x
Journal of Inherited Metabolic Disease; Morava E, Tiemes V et. al.

Jun 11th, 2016 - Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. Base...

Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3265770
Genetic Testing and Molecular Biomarkers; Goreta SS, Dabelic S et. al.

Sep 8th, 2011 - The congenital disorder of glycosylation (CDG)-Ic (ALG6-CDG, CDG-Ic) is caused by mutations in the hALG6 gene that encodes the N-glycosylation pathway enzyme, α-1,3-glucosyltransferase (NP_037471.2). The aim of our study was to estimate the freque...

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a cas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861021
Orphanet Journal of Rare Diseases; Al-Owain M, Mohamed S et. al.

Apr 19th, 2010 - 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...

see more →