Results 41 to 50 of about 2,863,419 (210)
Genetic testing for color vision deficiency
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner.
Abeshi Andi +5 more
doaj +1 more source
Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization [PDF]
, 2012 Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M. +76 more
core +2 more sources
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic
, 2018 Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency.
Kobayashi, Jeff +9 more
core +1 more source
A survey of genetic improvement search spaces [PDF]
, 2019 Genetic Improvement (GI) uses automated search to improve existing software. Most GI work has focused on empirical studies that successfully apply GI to improve software's running time, fix bugs, add new features, etc. There has been little research into
Alexander, B +17 more
core +1 more source
Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency
Biomedicines, 2023 Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with high unmet needs, as current dietary and medical treatments may not be sufficient to prevent hyperammonemic episodes, which can cause death or neurological sequelae.
Berna Seker Yilmaz, Paul Gissen
doaj +1 more source
Thrombosis in inherited factor VII deficiency
, 2003 Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic
WULFF K +12 more
core +1 more source
Prevalence and risk factors for vitamin C deficiency in North and South India: A two centre population based study in people aged 60 years and over [PDF]
, 2011 BackgroundStudies from the UK and North America have reported vitamin C deficiency in around 1 in 5 men and 1 in 9 women in low income groups. There are few data on vitamin C deficiency in resource poor countries.ObjectivesTo investigate the prevalence ...
K. Gupta Sanjeev +53 more
core +2 more sources
Genetic Studies on Myeloperoxidase Deficiency in Italy
Japanese Journal of Infectious Diseases, 2004 Hereditary myeloperoxidase (MPO) deficiency is the most common neutrophil biochemical defect characterized by the lack of peroxidase activity. In order to extend the epidemiological studies on hereditary MPO deficiency in Italy, approximately 40,000 individuals were analyzed and 7 partial and 8 total MPO deficient subjects were identified.
MARCHETTI C +4 more
openaire +3 more sources
Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement [PDF]
, 2014 Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients
Matthew Buckland (589995) +27 more
core +2 more sources
BMC Research Notes, 2019 Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa +6 more
doaj +1 more source