Results 1 to 10 of about 6,687 (167)
Formation and Performance Evaluation of Colloidal Dispersion Gels Prepared Using Sulfonated Polyacrylamides and Chromium (III) Acetate [PDF]
Journal of Chemical and Petroleum Engineering, 2021 Using a sulfonated polyacrylamide (SPAM) and Cr3+, a new colloidal dispersion gel (CDG) was prepared. The viscosity of the CDG samples in different crosslinker concentrations and brine compositions was measured.
Reza Rahimi +1 more
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SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype [PDF]
Frontiers in Genetics, 2021 Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis. Additional symptoms are still poorly defined. In this case study, we discuss 11 genetically confirmed cases, and report on emerging
Nazreen Kamarus Jaman +7 more
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Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases
Frontiers in Molecular Biosciences, 2021 More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out of which only 5% have treatment. The development of novel genome sequencing techniques has accelerated the discovery and diagnosis in RDs.
Sandra Brasil +14 more
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Orphanet Journal of Rare Diseases, 2022 Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences.
C. Pascoal +13 more
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Congenital disorders of glycosylation (CDG): state of the art in 2022
Orphanet Journal of Rare Diseases, 2023 Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and ...
Rita Francisco +6 more
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Journal of Inherited Metabolic Disease, 2011 As of 2011, we know more than 3000 inherited diseases. Among these genetic entities, congenital disorders of glycosylation is one of the most rapidly growing groups, with actually about 50 subtypes known, positioning CDG in the focus of attention of both clinicians and basic scientists (Table (Table11).
Morava, E., Lefeber, D.J.
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Orphanet Journal of Rare Diseases, 2022 Background Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full CDG biological and clinical comprehension.
Rita Francisco +6 more
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Orphanet Journal of Rare Diseases, 2022 Background Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the continuous efforts of the CDG medical ...
Maria Monticelli +8 more
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Diagnostics, 2021 Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications ...
Patryk Lipiński +4 more
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Molecular Genetics and Metabolism Reports, 2021 Introduction: The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in ...
Patryk Lipiński +2 more
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