Results 91 to 100 of about 631,764 (332)
Biomédica: revista del Instituto Nacional de SaludIntroduction. Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient. Objective.
Mónica Fernandes Pineda +1 more
doaj +1 more source
Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo
Allergy, Asthma & Clinical Immunology, 2022 Background IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema.
Leonardo Oliveira Mendonça +9 more
doaj +1 more source
Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department [PDF]
, 2021 Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults.
Castelbón, Francisco Javier +7 more
core +2 more sources
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs and symptoms of human Mendelian diseases in databases such as OMIM and Orphanet.
arxiv +1 more source
Frontiers in Immunology, 2022 Inflammatory bowel diseases (IBD) are chronic inflammatory conditions of the gastrointestinal tract, including Crohn’s disease, ulcerative colitis and inflammatory bowel disease-undefined (IBD-U).
J. Ouahed
semanticscholar +1 more source
Chiral Engineered Biomaterials: New Frontiers in Cellular Fate Regulation for Regenerative Medicine
Advanced Functional Materials, EarlyView.Chiral engineered biomaterials can selectively influence cell behaviors in regenerative medicine. This review covers chiral engineered biomaterials in terms of their fabrication methods, cellular response mechanisms, and applications in directing stem cell differentiation and tissue function.
Yuwen Wang +5 more
wiley +1 more source
Further characterization of NFIB‐associated phenotypes: Report of two new individuals
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023 Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella +8 more
wiley +1 more source
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017 El síndrome Weaver es una enfermedad genética poco frecuente, caracterizada por una estatura alta, una apariencia facial típica y una discapacidad intelectual variable.
Elayne Esther Santana Hernández +1 more
doaj
Application of muscle MRI in diagnosis of hereditary myopathies
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 MRI is the most clear and accurate imaging technique for detecting muscle involvement. In recent years, MRI has been widely used in diagnosis and follow⁃up of muscle disorders.
SONG Jia +4 more
doaj +1 more source
Genetic diseases of renal phosphate handling.
Nephrology, Dialysis and Transplantation, 2014 UNLABELLED Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1 ...
C. Wagner +3 more
semanticscholar +1 more source