Results 101 to 110 of about 12,683 (169)

Mevalonic Kinase: Purification and Properties

Journal of Biological Chemistry, 1958
openaire   +2 more sources

Neonatal Hydrops and Biliary Atresia as an Early Presentation of Mevalonate Kinase Deficiency: A Case Report. [PDF]

Cureus
Almomani SA, Ponnambath HIC, Yahya A.
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

Mevalonate kinase represses anthocyanin biosynthesis via sucrose transporters and gibberellin synthesis pathways in arabidopsis. [PDF]

Plant Cell Rep
Kang J, Cho S, Kang K, Kim D, Bae SI, Shin E, Park SY, Stacey G, Paek NC, Cho SH.   +9 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

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

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