A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastating metabolic decompensations and thus would benefit from newborn screening (NBS). The diagnosis is currently made by me...

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Dettagli Bibliografici
Pubblicato in:JIMD Rep
Autori principali: Václavík, Jan, Mádrová, Lucie, Kouřil, Štěpán, de Sousa, Julie, Brumarová, Radana, Janečková, Hana, Jáčová, Jaroslava, Friedecký, David, Knapková, Mária, Kluijtmans, Leo A. J., Grünert, Sarah C., Vaz, Frédéric M., Janzen, Nils, Wanders, Ronald J. A., Wevers, Ron A., Adam, Tomáš
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2020
Soggetti:
Research Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7358667/
https://ncbi.nlm.nih.gov/pubmed/32685354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12118
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