Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

INTRODUCTION: We describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood. METHODS: Retrospective cohort study in patients with a genetically confirmed ZSD. RESULTS: All patients (n = 19; aged 16–35 years) had a follow-up period of 1–24.4 years (mean...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Inherit Metab Dis
Egile Nagusiak: Berendse, Kevin, Engelen, Marc, Ferdinandusse, Sacha, Majoie, Charles B. L. M., Waterham, Hans R., Vaz, Frédéric M., Koelman, Johannes H. T. M., Barth, Peter G., Wanders, Ronald J. A., Poll-The, Bwee Tien
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Netherlands 2015
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4710674/
https://ncbi.nlm.nih.gov/pubmed/26287655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9880-2
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