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1دورية أكاديمية
المؤلفون: Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Peroxisomal disorders, Zellweger spectrum disorders, X-linked adrenoleukodystrophy, Oxidative stress, Autophagy, Mitogen-activated protein kinases (MAPKs), Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina
المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 3 (2023)
مصطلحات موضوعية: newborn screening, lysosomal storage disease, Pompe disease, mucopolysaccharidosis type I, Gaucher disease, Fabry disease, Pediatrics, RJ1-570
وصف الملف: electronic resource