Results 31 to 40 of about 308,307 (292)
Enzymatic insights into an inherited genetic disorder
eLife, 2017 Mutations in an enzyme involved in protein degradation affect a signaling pathway that stimulates the development of the digestive tract.
Liping Zhang, Kelly G Ten Hagen
doaj +1 more source
Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia [PDF]
, 2017 The most worrying complication of replacement therapy for severe hemophilia A and B is currently the occurrence of inhibitory alloantibodies against infused factor VIII and factor IX, respectively.
Franchini, Massimo +6 more
core +1 more source
Inherited iron overload disorders [PDF]
Translational Gastroenterology and Hepatology, 2020 Hereditary iron overload includes several disorders characterized by iron accumulation in tissues, organs, or even single cells or subcellular compartments. They are determined by mutations in genes directly involved in hepcidin regulation, cellular iron uptake, management and export, iron transport and storage.
Piperno, Alberto +2 more
openaire +3 more sources
Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives
Clinical Ophthalmology, 2023 Ali Osman Saatci,1 Ferdane Ataş,2 Gökhan Ozan Çetin,3 Mustafa Kayabaşı1 1Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey; 2Department of Ophthalmology, Çerkezköy State Hospital, Tekirdağ, Turkey; 3Department
Saatci AO +3 more
doaj
Diagnosis of Brugada Syndrome, a Rare Inherited Arrhythmogenic Disorder
Dubai Medical Journal, 2020 Brugada syndrome (BrS) is a rare, autosomal dominant genetic disorder with mutation in the SCN5A gene. It is associated with an increased risk of arrhythmias and sudden cardiac death.
Juwairiya Syed Iqbaluddin +2 more
doaj +1 more source
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]
, 2015 Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A +6 more
core +1 more source
International Journal of Neonatal Screening, 2021 Sickle cell disease (SCD) is a severe non-malignant disorder of hemoglobin and is inherited in an autosomal-recessive manner [...]
Stephan Lobitz +7 more
doaj +1 more source
Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants. [PDF]
, 2019 De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of ...
Brown, C Titus +2 more
core +1 more source
Inherited Reticulate Pigmentary Disorders
Genes, 2023 Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD ...
Min-Huei Lin +5 more
openaire +2 more sources
Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh
Orphanet Journal of Rare Diseases, 2023 Background Inherited blood disorders affect 7% of the population worldwide, with higher prevalences in countries in the “thalassemia belt,” which includes Bangladesh.
Amanda S. Wendt +5 more
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