Results 71 to 80 of about 443 (126)

Updates in the Management of Hereditary Periodic Fever Syndromes in Children. [PDF]

Cureus
Tripathy SK, Kumar A, Das S, Wander A, Kundu S.   +4 more
europepmc   +1 more source

Management of Mevalonate Kinase Deficiency: A Pediatric Perspective. [PDF]

Front Immunol, 2020
Jeyaratnam J, Frenkel J.
europepmc   +1 more source

Carrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia. [PDF]

JBRA Assist Reprod
Idárraga GDO, Suárez IDM, Muriel LMC, Osorio KGH, Corredor DMD, Montealegre PA.   +5 more
europepmc   +1 more source

The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases. [PDF]

Front Pediatr
Meertens B, Hoste L, Tavernier SJ, Haerynck F.   +3 more
europepmc   +1 more source

Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients. [PDF]

Sci Rep
Salehi M, Ahanchian H, Karimiani EG, Aelami MH, Moazzen N, Neshati Z, Pasdar A.   +6 more
europepmc   +1 more source

Hyperimmunoglobulinemia D Syndrome Masquerading as Familial Mediterranean Fever, Hidradenitis Suppurativa, and Crohn's Disease: A Case Report. [PDF]

Saudi J Med Med Sci
Juraij M, Barakat F, Ifthikar Z, Alsohaibani F.   +3 more
europepmc   +1 more source

Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype. [PDF]

Front Immunol
Politiek FA, Turkenburg M, Ofman R, Waterham HR.   +3 more
europepmc   +1 more source

Plasma Proteomics Identifies Proteins and Pathways Associated with Cataract: A Prospective Cohort Study. [PDF]

Ophthalmol Sci
Zhang Y, Yu J, Peng Y, Yim CC, Kam KW, Ho M, Fang D, Zhang XJ, Ng MPH, Ip P, Pang CP, Tham CC, Chen LJ, Yam JC.   +13 more
europepmc   +1 more source

Updates on protein-prenylation and associated inherited retinopathies. [PDF]

Front Ophthalmol (Lausanne)
Ashok S, Ramachandra Rao S.
europepmc   +1 more source

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases. [PDF]

Front Ophthalmol (Lausanne)
Fonollosa A, Carreño E, Vitale A, Jindal AK, Ramanan AV, Pelegrín L, Santos-Zorrozua B, Gómez-Caverzaschi V, Cantarini L, Fabiani C, Hernández-Rodríguez J.   +10 more
europepmc   +1 more source