Results 61 to 70 of about 45,424 (315)
Inborn errors of immunity with eosinophilia
Allergology International, 2021 Monogenic diseases of the immune system, also known as inborn errors of immunity (IEIs), are caused by single-gene mutations and result in immune deficiency and dysregulation. More than 400 monogenic diseases have been described to date, and this number is rapidly expanding.
Keisuke Okamoto, Tomohiro Morio
openaire +4 more sources
Arthritis Care &Research, EarlyView.Objective Targeted synthetic disease‐modifying antirheumatic drugs (tsDMARDs) have expanded the management of autoimmune diseases, including rheumatic diseases. As the use of these drugs grows, it is important to understand their effects on pregnancy.
Vienna Cheng +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 228-233, January 2023., 2023 Abstract Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%)
Paul Upton +5 more
wiley +1 more source
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Endocrinology, Diabetes & Metabolism, 2023 Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli +12 more
doaj +1 more source
Advanced Functional Materials, EarlyView.This study presents a novel approach to designing and fabricating high‐porosity 3D‐printed scaffolds using a customized resin. Scaffold geometry, cellular interactions, and mechanical properties are analyzed to demonstrate these engineered bone models.
Sera Choi +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023 Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram +11 more
wiley +1 more source
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders
Orphanet Journal of Rare Diseases, 2020 Background Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients.
Alice Brambilla +7 more
doaj +1 more source
Carnitine Inborn Errors of Metabolism [PDF]
Molecules, 2019 Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai +2 more
openaire +3 more sources
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
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023 Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse +8 more
wiley +1 more source