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Page 1
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.
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.
Chiesa A, Spécola N, Poubel M, Vela-Amieva M, Jurecki E, Vilela DR, Mesojedovas D, Carneiro GC, Eiroa H, Nakamura KH, de Almeida ML, Cunha RB, Amorim T, Schwartz IVD. Chiesa A, et al. Among authors: schwartz ivd. Mol Genet Metab Rep. 2023 Nov 21;38:101026. doi: 10.1016/j.ymgmr.2023.101026. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38077955 Free PMC article.
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP, Altmann V, Vairo FPE, Schwartz IVD, Siebert M; MilitaoBrazilian Collaborative Group on Gaucher Disease. Basgalupp SP, et al. Among authors: schwartz ivd. Mol Genet Metab Rep. 2023 Sep 9;37:101006. doi: 10.1016/j.ymgmr.2023.101006. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053927 Free PMC article.
234 results