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About 14 results

ALLMedicine™ Alg3-cdg Center

Research & Reviews  7 results

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
https://doi.org/10.1002/jimd.12367
Journal of Inherited Metabolic Disease; Alsharhan H, Ng BG et. al.

Feb 14th, 2021 - Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3-CDG frequently exhibit severe neurological in...

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789416
Orphanet Journal of Rare Diseases; Bogdańska A, Lipiński P et. al.

Jan 7th, 2021 - Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and molecular findings of CDG patients, and to...

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7906126
Brain & Development; Paketci C, Edem P et. al.

May 11th, 2020 - Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. Here, we report two siblings with dysm...

Congenital disorders of glycosylation: The Saudi experience.
https://doi.org/10.1002/ajmg.a.38358
American Journal of Medical Genetics. Part A; Alsubhi S, Alhashem A et. al.

Jul 25th, 2017 - We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were cl...

ALG3-CDG (CDG-Id)
https://rarediseases.info.nih.gov/diseases/9827/alg3-cdg-cdg-id

Jun 30th, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79321 Definition A form of congenital disorders of N-linked glycosylation characterized by severe neurological inv...

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Clinicaltrials.gov  7 results

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
https://doi.org/10.1002/jimd.12367
Journal of Inherited Metabolic Disease; Alsharhan H, Ng BG et. al.

Feb 14th, 2021 - Congenital disorders of glycosylation (CDGs) are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem diseases. Individuals with ALG3-CDG frequently exhibit severe neurological in...

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789416
Orphanet Journal of Rare Diseases; Bogdańska A, Lipiński P et. al.

Jan 7th, 2021 - Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and molecular findings of CDG patients, and to...

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7906126
Brain & Development; Paketci C, Edem P et. al.

May 11th, 2020 - Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. Here, we report two siblings with dysm...

Congenital disorders of glycosylation: The Saudi experience.
https://doi.org/10.1002/ajmg.a.38358
American Journal of Medical Genetics. Part A; Alsubhi S, Alhashem A et. al.

Jul 25th, 2017 - We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were cl...

ALG3-CDG (CDG-Id)
https://rarediseases.info.nih.gov/diseases/9827/alg3-cdg-cdg-id

Jun 30th, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79321 Definition A form of congenital disorders of N-linked glycosylation characterized by severe neurological inv...

see more →