Sapuppo A - Search Results

1

Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.

Fiumara A, Sapuppo A, Gasperini S, Crescitelli V, Sacchini M, Procopio E, Gragnaniello V, Burlina A. Fiumara A, et al. Among authors: sapuppo a. Mol Genet Metab Rep. 2024 Jul 26;40:101126. doi: 10.1016/j.ymgmr.2024.101126. eCollection 2024 Sep. Mol Genet Metab Rep. 2024. PMID: 39161458 Free PMC article.

2

Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic.

Fiumara A, Lanzafame G, Sapuppo A, Arena A, Cirnigliaro L, Barone R. Fiumara A, et al. Among authors: sapuppo a. Healthcare (Basel). 2023 Apr 19;11(8):1176. doi: 10.3390/healthcare11081176. Healthcare (Basel). 2023. PMID: 37108010 Free PMC article.

3

Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.

Sapuppo A, Pavone P, Praticò AD, Ruggieri M, Bertino G, Fiumara A. Sapuppo A, et al. BMC Med Genet. 2020 Jun 12;21(1):128. doi: 10.1186/s12881-020-01062-6. BMC Med Genet. 2020. PMID: 32532207 Free PMC article.

4

Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation.

Fiumara A, Sapuppo A, Ferri L, Arena A, Prato A, Garozzo D, Sturiale L, Morrone A, Barone R. Fiumara A, et al. Among authors: sapuppo a. Eur J Med Genet. 2023 Mar;66(3):104709. doi: 10.1016/j.ejmg.2023.104709. Epub 2023 Jan 24. Eur J Med Genet. 2023. PMID: 36706865

5

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases.

Fiumara A, Lanzafame G, Arena A, Sapuppo A, Raudino F, Praticò A, Pavone P, Barone R. Fiumara A, et al. Among authors: sapuppo a. J Clin Med. 2020 Aug 22;9(9):2716. doi: 10.3390/jcm9092716. J Clin Med. 2020. PMID: 32842622 Free PMC article.

6

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl.

Pappalardo MG, Di Nora A, Giugno A, Meli C, Sapuppo A, Pavone P, Fiumara A. Pappalardo MG, et al. Among authors: sapuppo a. Glob Med Genet. 2022 Sep 19;9(3):247-251. doi: 10.1055/s-0042-1756661. eCollection 2022 Sep. Glob Med Genet. 2022. PMID: 36132999 Free PMC article.

7

Balance impairment in cerebrotendinous xanthomatosis: Ankle strategy deficit. A case study.

Cioni M, Casabona A, Sapuppo A, Messina G, Fiumara A, Valle MS. Cioni M, et al. Among authors: sapuppo a. Clin Biomech (Bristol). 2023 Feb;102:105896. doi: 10.1016/j.clinbiomech.2023.105896. Epub 2023 Jan 21. Clin Biomech (Bristol). 2023. PMID: 36706624

8

Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature.

Di Nora A, Costanza G, Pizzo F, Di Mari A, Sapuppo A, Basile A, Fiumara A, Pavone P. Di Nora A, et al. Among authors: sapuppo a. Acta Neurol Belg. 2023 Jun;123(3):903-909. doi: 10.1007/s13760-022-02059-z. Epub 2022 Sep 6. Acta Neurol Belg. 2023. PMID: 36068432 Free PMC article. Review.

9

Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.

Lo Bianco M, Vecchio D, Timpanaro TA, Arena A, Macchiaiolo M, Bartuli A, Sciuto L, Presti S, Sciuto S, Sapuppo A, Fiumara A, Marino L, Messina G, Pavone P. Lo Bianco M, et al. Among authors: sapuppo a. Brain Sci. 2020 Jul 15;10(7):451. doi: 10.3390/brainsci10070451. Brain Sci. 2020. PMID: 32679641 Free PMC article.

10

[Lumbo-sacral eccrine poroma].

Sapuppo A, Fiumara A. Sapuppo A, et al. Riv Patol Clin Sper. 1968 Apr-Jun;9(2):211-25. Riv Patol Clin Sper. 1968. PMID: 5738415 Italian. No abstract available.

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