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About 6 results

ALLMedicine™ Alg11-cdg Center

Research & Reviews  3 results

ALG11-CDG syndrome: Expanding the phenotype.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426632
American Journal of Medical Genetics. Part A; Haanpää MK, Ng BG et. al.

Jan 24th, 2019 - ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ...

Epileptic spasms in congenital disorders of glycosylation.
https://doi.org/10.1684/epd.2017.0901
Epileptic Disorders : International Epilepsy Journal With... Pereira AG, Bahi-Buisson N et. al.

Mar 16th, 2017 - Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central an...

ALG11-CDG (CDG-Ip)
https://rarediseases.info.nih.gov/diseases/12396/alg11-cdg-cdg-ip

Jun 30th, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280071 Definition A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (mi...

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Clinicaltrials.gov  3 results

ALG11-CDG syndrome: Expanding the phenotype.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426632
American Journal of Medical Genetics. Part A; Haanpää MK, Ng BG et. al.

Jan 24th, 2019 - ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ...

Epileptic spasms in congenital disorders of glycosylation.
https://doi.org/10.1684/epd.2017.0901
Epileptic Disorders : International Epilepsy Journal With... Pereira AG, Bahi-Buisson N et. al.

Mar 16th, 2017 - Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central an...

ALG11-CDG (CDG-Ip)
https://rarediseases.info.nih.gov/diseases/12396/alg11-cdg-cdg-ip

Jun 30th, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280071 Definition A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (mi...

see more →