Madeo A - Search Results

1

Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease.

Miano M, Madeo A, Cappelli E, Lanza F, Lanza T, Stroppiano M, Terranova P, Venè R, Bleesing JJH, Di Rocco M. Miano M, et al. Among authors: madeo a. J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3535-3542. doi: 10.1016/j.jaip.2020.06.065. Epub 2020 Jul 21. J Allergy Clin Immunol Pract. 2020. PMID: 32702516

2

Early miglustat therapy in infantile Niemann-Pick disease type C.

Di Rocco M, Dardis A, Madeo A, Barone R, Fiumara A. Di Rocco M, et al. Among authors: madeo a. Pediatr Neurol. 2012 Jul;47(1):40-3. doi: 10.1016/j.pediatrneurol.2012.04.005. Pediatr Neurol. 2012. PMID: 22704015

3

Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiency.

Giardino S, Lanino E, Morreale G, Madeo A, Di Rocco M, Gattorno M, Faraci M. Giardino S, et al. Among authors: madeo a. Pediatrics. 2015 Jan;135(1):e211-5. doi: 10.1542/peds.2014-2553. Epub 2014 Dec 22. Pediatrics. 2015. PMID: 25535259

4

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease.

Di Rocco M, Barone R, Madeo A, Fiumara A. Di Rocco M, et al. Among authors: madeo a. Pediatr Neurol. 2015 Oct;53(4):e15. doi: 10.1016/j.pediatrneurol.2015.06.017. Epub 2015 Jul 8. Pediatr Neurol. 2015. PMID: 26255750 No abstract available.

5

The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature.

Madeo A, Garaventa A, Sementa AR, Suffia C, Di Rocco M. Madeo A, et al. Blood Cells Mol Dis. 2018 Feb;68:106-108. doi: 10.1016/j.bcmd.2016.11.011. Epub 2016 Nov 23. Blood Cells Mol Dis. 2018. PMID: 27908537 Review.

6

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

Chiabrando D, Castori M, di Rocco M, Ungelenk M, Gießelmann S, Di Capua M, Madeo A, Grammatico P, Bartsch S, Hübner CA, Altruda F, Silengo L, Tolosano E, Kurth I. Chiabrando D, et al. Among authors: madeo a. PLoS Genet. 2016 Dec 6;12(12):e1006461. doi: 10.1371/journal.pgen.1006461. eCollection 2016 Dec. PLoS Genet. 2016. PMID: 27923065 Free PMC article.

7

Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

Di Rocco M, Rusmini M, Caroli F, Madeo A, Bertamino M, Marre-Brunenghi G, Ceccherini I. Di Rocco M, et al. Among authors: madeo a. Clin Genet. 2018 Mar;93(3):671-674. doi: 10.1111/cge.13134. Epub 2018 Jan 12. Clin Genet. 2018. PMID: 28892125

8

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

Di Rocco M, Pisciotta L, Madeo A, Bertamino M, Bertolini S. Di Rocco M, et al. Among authors: madeo a. Orphanet J Rare Dis. 2018 Jan 27;13(1):24. doi: 10.1186/s13023-018-0768-8. Orphanet J Rare Dis. 2018. PMID: 29374495 Free PMC article.

9

Mucopolysaccharidoses: early diagnostic signs in infants and children.

Galimberti C, Madeo A, Di Rocco M, Fiumara A. Galimberti C, et al. Among authors: madeo a. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):133. doi: 10.1186/s13052-018-0550-5. Ital J Pediatr. 2018. PMID: 30442162 Free PMC article. Review.

10

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability.

Tolomeo D, Rubegni A, Severino M, Pochiero F, Bruno C, Cassandrini D, Madeo A, Doccini S, Pedemonte M, Rossi A, D'Amore F, Donati MA, Di Rocco M, Santorelli FM, Nesti C. Tolomeo D, et al. Among authors: madeo a. J Neurol Sci. 2019 Apr 15;399:69-75. doi: 10.1016/j.jns.2019.02.010. Epub 2019 Feb 6. J Neurol Sci. 2019. PMID: 30776730

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