Results 1 to 10 of about 3,349,381 (285)

Corrigendum: Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017–2022

Frontiers in Genetics
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He   +10 more
openaire   +2 more sources

Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders. [PDF]

Medicina (Kaunas)
Napiorkowska-Baran K, Pastuszczak M, Płocka-Karpińska M, Tykwińska M, Treichel P, Margossian GA, Margossian CL, Rogalska A, Czajkowski R.   +8 more
europepmc   +1 more source

Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis. [PDF]

J Hum Immun
Yanes T, Cole T, Kane A, King J, Pinzon-Charry A, Hsiao KC, McNaughton P.   +6 more
europepmc   +1 more source

Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study. [PDF]

Orphanet J Rare Dis
Anh PNL, Tuan NM, Cuc CTT, Khanh LTX, Thach PNQ, Hung NT, Minh NNQ, Bao BC, Nghia H, Vu HA, Xinh PT.   +10 more
europepmc   +1 more source

Sponge-like sonographic pattern of the spleen in immune dysregulation disorders. [PDF]

Front Immunol
Costagliola G, De Marco E, Amato L, Roberti G, Sabattini E, Catena F, Moratti M, Casazza G, Conti F, Consolini R.   +9 more
europepmc   +1 more source

Editorial: Newborn screening for inborn errors of metabolism volume II. [PDF]

Front Pediatr
Elmonem MA, van den Heuvel LP.
europepmc   +1 more source

Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity. [PDF]

Front Genet
Kim Lien NT, Van Tung N, Minh Huong LT, Van Anh NT, Phuong Mai NT, Dien TM, Hien NT, Tao NT, Hoang NH.   +8 more
europepmc   +1 more source

Disseminated Tuberculosis and Early-Onset SLE in a Child with a Novel STAT1 Gain-of-Function Mutation: a Case Report. [PDF]

J Clin Immunol
Arslan S, Sert A, Özçelik M, Barış S, Aydoğmuş Ç, Kaba Ö, Çil Yılmaz B, Erdil S, Yırgın K, Gökmirza P, Çatak MC.   +10 more
europepmc   +1 more source

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies. [PDF]

Front Med (Lausanne)
Cimino C, Sortino V, Sapuppo A, Saporito MAN, Scarlata F, Falsaperla R.   +5 more
europepmc   +1 more source

Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations. [PDF]

Int J Mol Sci
Pantea CL, Bataneant M, Jurcut C, Cochino A, Ioan A, Munteanu CV, Zimbru CG, Urtila P, Chirita-Emandi A.   +8 more
europepmc   +1 more source