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Experiences of parents with children with congenital disorders of glycosylation: What can we learn from them?

Article

Background: Congenital disorders of glycosylation are a group of rare metabolic, genetic diseases that
cause severe cognitive and physical impairments. Owing to the rarity of this condition, the experiences of
these parents are poorly understood.
Objective: This study aimed to explore parents’ experiences of caring for a child or young adult with
congenital disorders of glycosylation.

Disorders (CDG Types): All CDGs
Year: 2021
Authors: Carolina Cardão, Luísa Barros, Rita Francisco, Dorinda Silva, Vanessa Dos Reis Ferreira
Keywords: CDG, Congenital Disorders of Glycosylation, Qualitative study, Parents’ experience, Rare Diseases

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MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

Article

MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms. Analysis of carbohydrate deficient transferrin (CDT) showed a Type 1 pattern and molecular analysis confirmed the diagnosis of MPI‐CDG.

Disorders (CDG Types): MPI-CDG
Year: 2020
Authors: Tawhida Y Abdel Ghaffar, Bobby G Ng, Solaf M Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H Freeze
Keywords: CDG, Congenital Disorders of Glycosylation, genetic variants, liver involvement, mannose, MPI‐CDG, portal hypertension

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Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?

Article

The amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, holds great promise in this area and is already being successfully applied to basic research, diagnosis, drug discovery, and clinical trials.

Disorders (CDG Types): All CDGs
Year: 2019
Authors: Sandra Brasil, Carlota Pascoal, Rita Francisco, Vanessa Dos Reis Ferreira, Paula A Videira, Gonçalo Valadão
Keywords: Artificial Intelligence, Big Data, Congenital Disorders of Glycosylation, Diagnosis, Drug Repurposing, Machine Learning, Personalized Medicine, Rare Diseases

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Immunological aspects of congenital disorders of glycosylation (CDG): a review

Article

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases comprising more than 85 known distinct disorders. They show a great phenotypic variability ranging from multi-organ/system to mono-organ/system involvement with very mild to extremely severe expression. Immunological dysfunction has a significant impact on the phenotype in a minority of CDG.

Disorders (CDG Types): All CDGs
Year: 2016
Keywords: CDG, Congenital Disorders of Glycosylation

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