0000000000867329

AUTHOR

Daisy Rymen

showing 2 related works from this author

Key features and clinical variability of COG6-CDG

2015

The conserved oligomeric Golgi (COG) complex consists of eight subunits and plays a crucial role in Golgi trafficking and positioning of glycosylation enzymes. Mutations in all COG subunits, except subunit 3, have been detected in patients with congenital disorders of glycosylation (CDG) of variable severity. So far, 3 families with a total of 10 individuals with biallelic COG6 mutations have been described, showing a broad clinical spectrum. Here we present 7 additional patients with 4 novel COG6 mutations. In spite of clinical variability, we delineate the core features of COG6-CDG i.e. liver involvement (9/10), microcephaly (8/10), developmental disability (8/10), recurrent infections (7…

MaleMicrocephalyGlycosylationAdolescentEndocrinology Diabetes and MetabolismProtein subunitHyperkeratosisMolecular Sequence DataGolgi ApparatusCase ReportsResearch SupportBiochemistryConserved oligomeric Golgi complexYoung AdultEndocrinologyCogCongenital Disorders of GlycosylationGeneticsJournal ArticleMedicineHumansNon-U.S. Gov'tChildMolecular BiologyExome sequencingGenetic Association StudiesGeneticsbusiness.industryConserved oligomeric Golgi complexResearch Support Non-U.S. Gov'tHigh-Throughput Nucleotide SequencingInfantCongenital disorder of glycosylationmedicine.diseasePhenotypeAdaptor Proteins Vesicular TransportPhenotypeCOG6MutationMicrocephalyFemaleCDGbusinessCongenital disorder of glycosylation
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Worldwide experience of homozygous familial hypercholesterolaemia:retrospective cohort study

2022

[Background]: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Current guidance about its management and prognosis stems from small studies, mostly from high-income countries. The objective of this study was to assess the clinical and genetic characteristics, as well as the impact, of current practice on health outcomes of HoFH patients globally.

AdultMaleHomozygous Familial HypercholesterolemiaAdolescentretrospective studyCHILDRENDoenças Cardio e Cérebro-vascularesCohort StudiesYoung AdultMedicine General & InternalGeneral & Internal MedicineCardiovascular DiseaseHumansRegistriesLIPOPROTEIN-APHERESISChild11 Medical and Health SciencesRetrospective StudiesHomozygous Familial Hypercholesterolaemia International Clinical CollaboratorsScience & TechnologyGUIDANCEclinical characteristicEVOLOCUMABHomozygous familial hypercholesterolemia; Worldwide; Therapies; Cardiovascular diseaseGeneral MedicineCARECardiovascular diseaseOPEN-LABELEFFICACYINSIGHTSTherapiesChild PreschooloutcomeFemalegeneticFamilial HypercholesterolaemiaLife Sciences & BiomedicineWorldwide
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