Results 41 to 50 of about 443 (126)

AB1063 INTERSTITIAL LUNG DISEASE IN A NEWBORN AFFECTED BY MEVALONIC ACIDURIA [PDF]

Annals of the Rheumatic Diseases, 2019
Background Mevalonic aciduria (MA) is the most severe phenotype of mevalonate-kinase deficiency (MKD), with early onset and poor prognosis. Given its rarity and its unspecific symptoms, MA diagnosis may be challenging in the newborn. To our knowledge, interstial lung involvement has never been described as onset feature in MKD.
Sofia Torreggiani, Carlo Pietrasanta, Francesca Minoia, Giovanni Filocamo, Andrea Ronchi, Stefano Volpi, Roberta Caorsi, Marco Gattorno, Francesco Caroli, Alice Grossi, Isabella Ceccherini, Lorenza Pugni, Fabio Mosca   +12 more
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Mevalónová acidúria / Mevalonic aciduria

Súhrn Mevalónová acidúria (OMIM#610377) je zriedkavá dedičná metabolická porucha zapríčinená deficitom mevalonátkinázy, ktorá katalyzuje jednu z prvých reakcií pri biosyntéze cholesterolu a iných nesteroidných izoprenoidov. V závislosti od reziduálnej aktivity enzýmu sa  klinicky manifestuje ako  mevalónová acidúria alebo hyper-IgD syndróm (HIDS ...
Slabá, Lucia, Šebová, Claudia, Hlavatá, Anna, Brucknerová, Ingrid, Prídavok, Matúš, Maceková, Danka, Petrovič, Róbert, Šťastná, Sylvie   +7 more
openaire   +1 more source

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

Journal of Biological Chemistry, 1992
Mevalonic aciduria is the first proposed inherited disorder of the cholesterol/isoprene biosynthetic pathway in humans, and it is presumed to be caused by a mutation in the gene coding for mevalonate kinase. To elucidate the molecular basis of this inherited disorder, a 2.0-kilobase human mevalonate kinase cDNA clone was isolated and sequenced.
B L, Schafer, R W, Bishop, V J, Kratunis, S S, Kalinowski, S T, Mosley, K M, Gibson, R D, Tanaka   +6 more
openaire   +2 more sources

Mevalonic aciduria [PDF]

, 2020
openaire   +2 more sources

Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas

Turkiye Klinikleri Journal of Case Reports, 2022
Temel, Şehime Gülsün, Özemri Sağ, Şebnem, Çekiç, Şükrü, Kılıç Gültekin, Sara Şebnem, Köse, Hülya   +4 more
openaire   +2 more sources

Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency. [PDF]

Glob Pediatr Health, 2023
Souali M, Sakhi A, Bousfiha AA, Bouayed K.   +3 more
europepmc   +1 more source

Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects. [PDF]

Mol Genet Metab, 2023
de Boer L, Cambi A, Verhagen LM, de Haas P, van Karnebeek CDM, Blau N, Ferreira CR.   +6 more
europepmc   +1 more source

Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency. [PDF]

J Clin Invest, 2022
Munoz MA, Skinner OP, Masle-Farquhar E, Jurczyluk J, Xiao Y, Fletcher EK, Kristianto E, Hodson MP, O'Donoghue SI, Kaur S, Brink R, Zahra DG, Deenick EK, Perry KA, Robertson AA, Mehr S, Hissaria P, Mulders-Manders CM, Simon A, Rogers MJ.   +19 more
europepmc   +1 more source

The challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis

Ginekologia Polska
Aleksandra Mikolajczak, Katarzyna Bernat-Sitarz   +1 more
doaj   +1 more source

Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings. [PDF]

Cureus
Esmeraldo MA, Prates IR, Lucato LT, Barbosa Junior AA.   +3 more
europepmc   +1 more source