Results 121 to 130 of about 22,445 (200)

Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis. [PDF]

Int J Environ Res Public Health, 2021
Pisanti S, Citro M, Abate M, Caputo M, Martinelli R.   +4 more
europepmc   +1 more source

Incomplete mitophagy in the mevalonate kinase-deficient Saccharomyces cerevisiae and its relation to the MKD-related autoinflammatory disease in humans. [PDF]

Biochim Biophys Acta Mol Basis Dis, 2021
Santos MMS, Gatica D, de Azêvedo Silva J, Crovella S, Klionsky DJ, De Morais MA.   +5 more
europepmc   +1 more source

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency. [PDF]

Orphanet J Rare Dis
Pugliese A, von Landenberg C, Gallizzi R, Migliorato A, Pierno S, Rodolico C, Kornblum C, Arena IG, Kunz WS, Reimann J, Toscano A, Musumeci O.   +11 more
europepmc   +1 more source

Mevalonate kinase deficiency/Hyperimmunoglobulin D syndrome (MVK/HIDS) in a Differential Diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Familial Mediterranean Fever (FMF): A Case Report. [PDF]

Turk Arch Pediatr, 2022
Aktaş B, Gümüş D, Tunalı A, Kunter Z, Adrovic A.   +4 more
europepmc   +1 more source

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis

Clinical, Cosmetic and Investigational Dermatology
Xiuping Wang,1 Xiaoliang Ouyang,2 Deng Zhang,1 Yunxia Zhu,1 Liang Wu,1 Zhen Xiao,3 Simin Yu,1 Wei Li,2 Chunming Li1 1Department of Dermatology, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, People’s Republic of China ...
Wang X, Ouyang X, Zhang D, Zhu Y, Wu L, Xiao Z, Yu S, Li W, Li C   +8 more
doaj  

Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort. [PDF]

Pediatr Rheumatol Online J
Guan C, Wang W, Zhou Q, Sun J, Liu L, Liu L, Sun B, Hou J, Wang X.   +8 more
europepmc   +1 more source

Intracellular cholesterol transport proteins: roles in health and disease [PDF]

, 2016
Graham, Annette, Soffientini, Ugo
core   +1 more source

Systematized Linear Porokeratosis, with Underlying Mevalonate Kinase Mutation, Treated with a Combination of Radiosurgery and Oral Acitretin. [PDF]

Indian Dermatol Online J
Ray A, Pulimood SA, Pulimood SA, Thomas M, Danda S, Danda S.   +5 more
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

Interleukin-1 antagonists in Mevalonate Kinase Deficiency

Pediatric Rheumatology Online Journal, 2011
Hachulla E, Richer O, Pillet P, Duquesne A, Guillaume S, Rossi-Semerano L, Galeotti C, Koné-Paut I   +7 more
doaj   +1 more source