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Items: 1 to 20 of 85

1.

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.

Tylki-Szymańska A, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Parini R, Wijburg FA, Zeman J, Scarpa M.

Acta Paediatr. 2018 Aug;107(8):1402-1408. doi: 10.1111/apa.14417.

2.

Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases.

Bellettato CM, Hubert L, Scarpa M, Wangler MF.

Pediatr Clin North Am. 2018 Apr;65(2):353-373. doi: 10.1016/j.pcl.2017.11.011. Review.

PMID:
29502918
3.

Epilepsy in mucopolysaccharidosis disorders.

Scarpa M, Lourenço CM, Amartino H.

Mol Genet Metab. 2017 Dec;122S:55-61. doi: 10.1016/j.ymgme.2017.10.006. Epub 2017 Oct 16. Review.

4.

Treatment of brain disease in the mucopolysaccharidoses.

Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R.

Mol Genet Metab. 2017 Dec;122S:25-34. doi: 10.1016/j.ymgme.2017.10.007. Epub 2017 Oct 16. Review.

5.

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).

Muenzer J, Giugliani R, Scarpa M, Tylki-Szymańska A, Jego V, Beck M.

Orphanet J Rare Dis. 2017 Oct 3;12(1):161. doi: 10.1186/s13023-017-0712-3.

6.

Open issues in Mucopolysaccharidosis type I-Hurler.

Parini R, Deodato F, Di Rocco M, Lanino E, Locatelli F, Messina C, Rovelli A, Scarpa M.

Orphanet J Rare Dis. 2017 Jun 15;12(1):112. doi: 10.1186/s13023-017-0662-9. Review.

7.

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, Caciotti A, Morrone A, Scarpa M.

Metab Brain Dis. 2017 Oct;32(5):1529-1536. doi: 10.1007/s11011-017-0044-y. Epub 2017 Jun 3.

PMID:
28577204
8.

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Bodamer O, Scarpa M, Hung C, Pulles T, Giugliani R.

Mol Genet Metab Rep. 2017 May 3;11:62-64. doi: 10.1016/j.ymgmr.2017.02.004. eCollection 2017 Jun.

9.

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model.

Salvalaio M, D'Avanzo F, Rigon L, Zanetti A, D'Angelo M, Valle G, Scarpa M, Tomanin R.

Int J Mol Sci. 2017 May 17;18(5). pii: E1072. doi: 10.3390/ijms18051072.

10.

The Complexity of Pain Management in Children Affected by Mucopolysaccharidoses.

Congedi S, Di Pede C, Scarpa M, Rampazzo A, Benini F.

Case Rep Pediatr. 2017;2017:7257230. doi: 10.1155/2017/7257230. Epub 2017 Apr 3.

11.

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

Muenzer J, Jones SA, Tylki-Szymańska A, Harmatz P, Mendelsohn NJ, Guffon N, Giugliani R, Burton BK, Scarpa M, Beck M, Jangelind Y, Hernberg-Stahl E, Larsen MP, Pulles T, Whiteman DAH.

Orphanet J Rare Dis. 2017 May 2;12(1):82. doi: 10.1186/s13023-017-0635-z. Review.

12.

[Lysosomal Storage Diseases: Challenges in Multiprofessional Patient Care with Enzyme Replacement Therapy].

Das AM, Lagler F, Beck M, Scarpa M, Lampe C.

Klin Padiatr. 2017 May;229(3):168-174. doi: 10.1055/s-0043-103088. Epub 2017 May 2. German.

PMID:
28464188
13.

[European Reference Networks : Consequences for healthcare in Germany].

Graessner H, Schäfer F, Scarpa M, Wagner TOF.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017 May;60(5):537-541. doi: 10.1007/s00103-017-2533-x. German.

PMID:
28275837
14.

The ethical framework for performing research with rare inherited neurometabolic disease patients.

Giannuzzi V, Devlieger H, Margari L, Odlind VL, Ragab L, Bellettato CM, D'Avanzo F, Lampe C, Cassis L, Cortès-Saladelafont E, Cazorla ÁG, Barić I, Cvitanović-Šojat L, Fumić K, Dali CI, Bartoloni F, Bonifazi F, Scarpa M, Ceci A.

Eur J Pediatr. 2017 Mar;176(3):395-405. doi: 10.1007/s00431-017-2852-9. Epub 2017 Jan 16. Review.

15.

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Ponce EC, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2016 Nov 3;11(1):147. No abstract available.

16.

Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.

Zalfa C, Verpelli C, D'Avanzo F, Tomanin R, Vicidomini C, Cajola L, Manara R, Sala C, Scarpa M, Vescovi AL, De Filippis L.

Cell Death Dis. 2016 Aug 11;7(8):e2331. doi: 10.1038/cddis.2016.231.

17.

Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders.

Salvalaio M, Rigon L, Belletti D, D'Avanzo F, Pederzoli F, Ruozi B, Marin O, Vandelli MA, Forni F, Scarpa M, Tomanin R, Tosi G.

PLoS One. 2016 May 26;11(5):e0156452. doi: 10.1371/journal.pone.0156452. eCollection 2016.

18.

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Review. Erratum in: Orphanet J Rare Dis. 2016 Nov 3;11(1):147.

19.

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

Burton BK, Balwani M, Feillet F, Barić I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sánchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG.

N Engl J Med. 2015 Sep 10;373(11):1010-20. doi: 10.1056/NEJMoa1501365.

20.

Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.

Castellani C, Picci L, Tridello G, Casati E, Tamanini A, Bartoloni L, Scarpa M, Assael BM; Veneto CF Lab Network.

Genet Med. 2016 Feb;18(2):145-51. doi: 10.1038/gim.2015.68. Epub 2015 Jun 18.

PMID:
26087173

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