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Page 1
Magnetic resonance imaging findings in Hunter syndrome.
Finn CT, Vedolin L, Schwartz IV, Giugliani R, Haws CA, Prescot AP, Renshaw PF. Finn CT, et al. Among authors: schwartz iv. Acta Paediatr. 2008 Apr;97(457):61-8. doi: 10.1111/j.1651-2227.2008.00646.x. Acta Paediatr. 2008. PMID: 18339191 Review.
[Pseudo-glaucoma in type VI mucopolysaccharidosis: case report].
Marinho D, Azevedo AC, Rymer S, Giugliani R, Schwartz IV. Marinho D, et al. Among authors: schwartz iv. Arq Bras Oftalmol. 2007 May-Jun;70(3):563; author reply 564. Arq Bras Oftalmol. 2007. PMID: 17768572 Free article. Portuguese. No abstract available.
Homocysteine and methylmalonic acid in Phenylketonuria patients.
Hoss GRW, Sperb-Ludwig F, Tonon T, Poloni S, Behringer S, Blom HJ, Maillot F, Schwartz IVD. Hoss GRW, et al. Among authors: schwartz ivd. Genet Mol Biol. 2024 Apr 5;46(3 Suppl 1):e20230103. doi: 10.1590/1678-4685-GMB-2023-0103. eCollection 2024. Genet Mol Biol. 2024. PMID: 38591937 Free PMC article.
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Vernet Machado Bressan Wilke M, Iop GD, Faqueti L, Lemos da Silva LA, Kubaski F, Poswar FO, Michelin-Tirelli K, Randon D, Borelli WV, Giugliani R, Schwartz IVD. Vernet Machado Bressan Wilke M, et al. Among authors: schwartz ivd. Int J Mol Sci. 2024 Mar 1;25(5):2870. doi: 10.3390/ijms25052870. Int J Mol Sci. 2024. PMID: 38474117 Free PMC article.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: schwartz ivd. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis.
Dornelles AD, Junges APP, Krug B, Gonçalves C, de Oliveira Junior HA, Schwartz IVD. Dornelles AD, et al. Among authors: schwartz ivd. Front Pediatr. 2024 Feb 15;12:1310317. doi: 10.3389/fped.2024.1310317. eCollection 2024. Front Pediatr. 2024. PMID: 38425665 Free PMC article. Review.
235 results