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ALLMedicine™ Alg3-cdg Center

Research & Reviews  7 results

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
BMC Ophthalmology; Farolfi M, Cechova A et. al.

Jun 7th, 2021 - ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic ph...

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Journal of Inherited Metabolic Disease; Alsharhan H, Ng BG et. al.

Feb 15th, 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:...
Orphanet Journal of Rare Diseases; Bogdańska A, Lipiński P et. al.

Jan 8th, 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 ...
Brain & Development; Paketci C, Edem P et. al.

May 12th, 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.
American Journal of Medical Genetics. Part A; Alsubhi S, Alhashem A et. al.

Jul 26th, 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...

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