Results 51 to 60 of about 227 (76)

Epidemiological Characteristics of Pediatric Patients with Intestinal Failure in Spain: Data from the REPAFI Registry. [PDF]

Nutrients
Germán-Díaz M, González-Sacristán R, Cabello V, Blasco-Alonso J, Rodríguez A, de Los Santos M, Arcos-Machancoses JV, Murray-Hurtado M, García-Romero R, Galera-Martínez R, Martín-Arriscado C, Redecillas-Ferreiro S, Moreno-Villares JM, Ramos-Boluda E.   +13 more
europepmc   +1 more source

Genetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity. [PDF]

Eur J Pediatr
Yılmaz SY, Külhaş Çelik İ, Marzioğlu Özdemir E, Artaç H.   +3 more
europepmc   +1 more source

Congenital Diarrhoeas and Enteropathies. [PDF]

Nutrients
Köglmeier J, Lindley KJ.
europepmc   +1 more source

Monogenic inflammatory bowel disease: An unfolding enigma. [PDF]

World J Clin Pediatr
Ghosh U, Samanta A.
europepmc   +1 more source

Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review. [PDF]

Am J Clin Nutr
Avitzur Y, Jimenez L, Martincevic I, Acra S, Courtney-Martin G, Gray M, Hope K, Muise A, Prieto Jimenez PM, Taylor N, Thiagarajah JR, Martín MG, PediCODE Consortium.   +12 more
europepmc   +1 more source

Genetic Insights into Familial Hypospadias Identifying Rare Variants and Their Potential Role in Urethral Development. [PDF]

Genes (Basel)
Al-Shafai KN, Arar S, Jamil A, Azzah A, Mancha M, Saraiva LR, Abbas T.   +6 more
europepmc   +1 more source

A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment. [PDF]

Front Med (Lausanne)
Nuzhnaya E, Zaklyazminskaya E, Zabnenkova V, Akimova D, Tatarsky E, Dzik L, Surkov A, Zhurkova N, Filin A, Metelin A, Arakelyan A, Savina V, Babayan A, Skoblov M, Semenova N.   +14 more
europepmc   +1 more source

Hair Shaft Fracture in a Young Athlete: A Rare Case Report of Acquired Trichorrhexis Nodosa. [PDF]

Cureus
S A, R G S, C R V N, D SK, Geeta Sai G.
europepmc   +1 more source

Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis. [PDF]

Inflamm Bowel Dis
Ouahed JD, Griffith A, Collen LV, Snapper SB.   +3 more
europepmc   +1 more source

Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunization. [PDF]

Front Immunol
Chiang SCC, Owsley E, Husami A, Akeno N, Cobb CM, Yang L, Marsh RA, Myers KA, Rubin TS.   +8 more
europepmc   +1 more source