Results 61 to 70 of about 443 (126)

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment. [PDF]

Mol Syndromol, 2022
Koç Yekedüz M, Doğulu N, Öncül Ü, Köse E, Ceylaner S, Eminoğlu FT.   +5 more
europepmc   +1 more source

Inborn errors of immunity in Low German Mennonite communities in Mexico: a case series and narrative literature review. [PDF]

Front Immunol
Gámez-González LB, Lugo-Reyes SO, Guzmán-Cotaya R, Espinosa-Padilla SE, Murguía-Favela LE, Yamazaki-Nakashimada MA.   +5 more
europepmc   +1 more source

Prenylation Defects and Oxidative Stress Trigger the Main Consequences of Neuroinflammation Linked to Mevalonate Pathway Deregulation. [PDF]

Int J Environ Res Public Health, 2022
Pisanti S, Rimondi E, Pozza E, Melloni E, Zauli E, Bifulco M, Martinelli R, Marcuzzi A.   +7 more
europepmc   +1 more source

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience. [PDF]

Front Endocrinol (Lausanne), 2022
Kölker S, Gleich F, Mütze U, Opladen T.   +3 more
europepmc   +1 more source

Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant. [PDF]

Front Immunol
Hamidi LN, Drda JC, Belhocine M, Elfassy HL, Ducharme-Bénard S, Chayer-Lanthier M, Sultana B, Lanthier S.   +7 more
europepmc   +1 more source

Hyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS. [PDF]

J Transl Autoimmun
Chen W, Li X, Mai J, Tang K, Wang Y, Lu YY, Liang J, Li NJ, Qin XY, Li Y, Yao L, Qiu Y.   +11 more
europepmc   +1 more source

Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study. [PDF]

Saudi J Med Med Sci
Jelassi A, Nasrallah F, Talbi E, Hammami MB, Ghodbane R, Sanhaji H, Feki M, Kaabachi N, Hadj-Taieb S.   +8 more
europepmc   +1 more source

Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress. [PDF]

Pediatr Rheumatol Online J
Schulert GS.
europepmc   +1 more source

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations. [PDF]

Front Immunol
Lengvári L, Takács K, Lengyel A, Pálinkás A, Wouters CH, Koné-Paut I, Kuemmerle-Deschner J, Jeyaratnam J, Anton J, Lachmann HJ, Gattorno M, Hofer M, Toplak N, Weiser P, Kallinich T, Ozen S, Hentgen V, Uziel Y, Horváth Z, Szabados M, Brogan P, Constantin T, Frenkel J.   +22 more
europepmc   +1 more source

Comparative analysis of rare periodic fever syndromes including the first Korean case of hyperimmunoglobulinemia D and periodic fever syndrome. [PDF]

Clin Exp Pediatr
Yoon Y, Kim HS, Shim JO, Lee J.
europepmc   +1 more source