Results 291 to 300 of about 4,846,243 (320)

Inborn errors of metabolism. Vitamin-responsive genetic disease.

Journal of clinical pathology. Supplement (Royal College of Pathologists), 1984
The several ways in which vitamin administration may bring about a biochemical response in genetic abnormalities have been discussed. Two major interrelated lessons emerge from what we now know about vitamin-responsive genetic disease. First, it is possible to enhance metabolite flow through partially deficient reactions by suitable manipulation of the
openaire   +2 more sources

Genetics of Inborn Errors of Immunity in highly consanguineous Middle Eastern and North African populations.

Seminars in Immunology, 2023
Consanguineous marriages in Middle Eastern and North African (MENA) countries are deeply-rooted tradition and highly prevalent resulting into increased prevalence of autosomal recessive diseases including Inborn Errors of Immunity (IEIs).
H. Al-Mousa, M. Barbouche
semanticscholar   +1 more source

[Human genetic aspects of inborn ear, nose, and throat diseases].

HNO, 1985
The genetic analysis of malformations enables us to distinguish four groups of different anomalies: 1. Chromosomal disorders (gene and chromosome mutations). 2. Single (monogenic) hereditary anomalies and malformations (gene mutations: point-mutations). 3. Malformations with polygenic multifactorial basis (combination of genetic and exogenous factors).
openaire   +1 more source

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity

Journal of Clinical Immunology, 2021
H. Kuehn, Cristiane J Nunes-Santos, S. Rosenzweig   +2 more
semanticscholar   +1 more source

Inborn errors of autophagy and infectious diseases.

Current Opinion in Immunology, 2021
Ira K. D. Sabli, Vanessa Sancho-Shimizu
semanticscholar   +1 more source

Genetic susceptibility to EBV infection: insights from inborn errors of immunity

Human Genetics, 2020
S. Tangye
semanticscholar   +1 more source

Genetic Testing in Prostate Cancer Management: Considerations Informing Primary Care

Ca-A Cancer Journal for Clinicians, 2022
Todd M Morgan, Mary-Ellen Taplin, Veda N Giri   +2 more
exaly  

Refsum's disease (heredopathia atactica polyneuritiformis)

Human Genetics, 1965
R, Richterich, S, Rosin, E, Rossi
openaire   +2 more sources

Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases.

The Pediatric clinics of North America, 2018
C. Bellettato, L. Hubert, M. Scarpa, M. Wangler   +3 more
semanticscholar   +1 more source

Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases)

Current Allergy and Asthma Reports, 2018
Annely M. Richardson, A. Moyer, L. Hasadsri, R. Abraham   +3 more
semanticscholar   +1 more source