Results 201 to 210 of about 21,286 (221)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients. [PDF]

NAR Genom Bioinform
Pereda J, Espinosa R, García-Solís B, Guerra-Galán T, Van-Den-Rym A, Kars ME, Mena R, Galán V, de Andrés-Martín A, Rodríguez-Gallego C, López-Lera A, Corvillo F, Pérez-Martínez A, López-Collazo E, Sánchez-Ramón S, Martínez-Barricarte R, Quintana-Murci L, Lorenzo-Salazar JM, Itan Y, Flores C, Pérez-de-Diego R.   +20 more
europepmc   +1 more source

Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation. [PDF]

Immunol Res
Szczawińska-Popłonyk A.
europepmc   +1 more source

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou, Yu Wu, Guoran Li, Yongwen Qin, Man Qi, Zhitao Jin   +5 more
wiley   +1 more source

Autoimmune manifestations in children with inborn errors of immunity in Morocco: A study from the national registry. [PDF]

J Transl Autoimmun
Elamine A, Benhsaien I, Ailal F, Errami A, Kasmi Z, Aadam Z, Bourhanbour AD, Bousfiha AA, El Bakkouri J.   +8 more
europepmc   +1 more source

Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia. [PDF]

Clin Case Rep
Cluzeau T, Oussalah A, Silva Rodriguez M, Naïmi M.   +3 more
europepmc   +1 more source

What We Know and What We Don't Know About the Function of γδ T Cells. [PDF]

Eur J Immunol
Prinz I, Meyer A.
europepmc   +1 more source

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation. [PDF]

Int J Neonatal Screen
Vasco A, Berardo C, Lucchi S, Cappelletti L, Tamburello G, Fazzone S, Mauri A, Fiumani F, Postorivo D, Alberti L, Perrone Donnorso M, Gasperini S, Furlan F, Fiori L, Carelli S, Saielli LA, Montrasio C, Cereda C.   +17 more
europepmc   +1 more source

Genética Médica y personalidades mundiales: personajes con enfermedades de causa genética o errores en la morfogénesis

Revista de Ciencias Médicas de Pinar del Río
Estela Morales Peralta, Miguel Alfonso Alvarez Fornaris   +1 more
doaj  

Exome sequencing uncovers phenotypic and genotypic heterogeneity in 198 Indian families evaluated for autoinflammatory disorders

Badiger VA, Radhakrishnan P, Balan S, Rao AP, Udupa P, Nair KV, Hunakunti B, Prasannakumar AP, Shaikh HG, Naik R, Janarthanan M, Sridharan S, Sondhi V, Nampoothiri S, Shah H, Mahadevan S, Mamadapur M, Pandya D, Girisha KM, Shivpuri A, Moirangthem A, Raghuram J, Bhavani GSL, Jeevanagi S, Subramaniam G, Aggarwal A, Shukla A, Narayanan DL.   +27 more
europepmc   +1 more source