Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

215 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Mucopolysaccharidosis I: management and treatment guidelines.
Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Muenzer J, et al. Pediatrics. 2009 Jan;123(1):19-29. doi: 10.1542/peds.2008-0416. Pediatrics. 2009. PMID: 19117856
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
de Oliveira BM, Bernardi FA, Baiochi JF, Neiva MB, Artifon M, Vergara AA, Martins AM, Grumach AS, Acosta AX, Husny ASE, de Freitas Rodrigues Ribeiro B, Ramos CF, Steiner CE, Kim CA, Christofolini DM, Yamada DB, Carvalho EDF, Ribeiro EM, de Arruda Bastos F, Serpa FS, Brandão FR, Adjuto GMAF, Carvalho I, Saute JAM, Junior JCL, Bueno LSM, da Silva LCS, Santos MLSF, Costa MCM, Giusti MMCG, Galera MF, Filho MEC, de Andrade MDFC, De Oliveira Cardoso MT, de Menezes Ferreira MM, Zeny M, Caldato MCF, Sorte NB, Musolino NRC, de Medeiros PFV, Zen PRG, Da Silva RTB, Maia RE, Fock R, Almeida RES, Valle SOR, Amorim T, Teixeira TB, Prazeres VMG, de Faria Ferraz VE, Lima VC, Paiva WJM, Schwartz IVD, Alves D, Félix TM; Raras Network Group. de Oliveira BM, et al. Among authors: schwartz ivd. Orphanet J Rare Dis. 2024 Oct 30;19(1):405. doi: 10.1186/s13023-024-03392-7. Orphanet J Rare Dis. 2024. PMID: 39478612 Free PMC article.
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. Muntau AC, et al. Among authors: schwartz ivd. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt FH, Tonon T, Souza CFM, Poswar FO, Leite MEQ, Amorim T, Porta G, Seda Neto J, Miura IK, Steiner CE, Martins AM, Pessoa ALS, Ribeiro EM, Schwartz IVD. Tresbach RH, et al. Among authors: schwartz ivd. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108569. doi: 10.1016/j.ymgme.2024.108569. Epub 2024 Aug 29. Mol Genet Metab. 2024. PMID: 39270351
215 results