Results 41 to 50 of about 426 (123)

61 PRENATAL DIAGNOSIS OF MEVALONIC ACIDURIA BY STABLE ISOTOPE DILUTION GCMS [PDF]

Pediatric Research, 1986
Prenatal diagnosis of the organic acidurias that are life threatening or cause mental retardation is an important part of genetic counseling and may permit prenatal therapy. Eight different organoacidopathies have been successfully diagnosed prenatally by stable isotope dilution GCMS assays; there are 15 others potentially diagnosable. This methodology
C Bachmann, G Hoffmann, K M Gibson, W L Nyhan, L Sweetman   +4 more
openaire   +1 more source

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
openaire   +1 more source

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

Homozygous V377I mutation causing mevalonate kinase. [PDF]

BMJ Case Rep, 2022
Brito T, Banganho D, Pedrosa C, Farela Neves J.   +3 more
europepmc   +1 more source

Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism. [PDF]

Metabolites, 2022
Jones DE, Jennings EA, Ryan RO.
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