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Newborn Screening for Fabry Disease: Current Status of Knowledge.
Int J Neonatal Screen. 2023 Jun 5;9(2):31. doi: 10.3390/ijns9020031.
Int J Neonatal Screen. 2023.
PMID: 37367212
Free PMC article.
Review.
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
Gragnaniello V, Cazzorla C, Gueraldi D, Puma A, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Burlina AP, Burlina AB.
Gragnaniello V, et al. Among authors: stornaiuolo m.
Int J Neonatal Screen. 2023 Dec 25;10(1):3. doi: 10.3390/ijns10010003.
Int J Neonatal Screen. 2023.
PMID: 38248631
Free PMC article.
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Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A.
Gragnaniello V, et al. Among authors: stornaiuolo m.
Orphanet J Rare Dis. 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x.
Orphanet J Rare Dis. 2023.
PMID: 37974207
Free PMC article.
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