Results 81 to 90 of about 519 (143)

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

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

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

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

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

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

Front Immunol, 2020
Jeyaratnam J, Frenkel J.
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

Mevalonic aciduria: Does stem cell transplant fully cure disease?

, 2020
Carlos R. Ferreira, Ann Marie Szymanski, Lawrence Jung, Brett Loechelt, Blachy Dávila Saldaña   +4 more
core   +1 more source

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

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