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

227 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study.
van Spronsen F, Peters H, Margvelashvili L, Agladze D, Schwartz IVD, Giżewska M, Hamazaki T, Guilder L, MacDonald A, Vijay S, Inwood A, Minami M, Fjellbirkeland O, Lund A, Lah M, Thomas JA, Longo N, Kiykim E, Ishige M, Burlina A, Bélanger-Quintana A, Rutsch F, Opladen T, Mungan H, Ezgü F, Bratkovic D, Chakrapani A, Ito T, Guimas A, Zori R, Tchan M, Sacharow S, Oliveira A, Janeiro P, Guerra IC, Plana JC, Yıldız Y, Canda E, Khan A, Vockley J, Breilyn MS, Manti F, Larkin A, Hughes C, Liu E, Gao L, Ingalls K, Smith N, Muntau AC. van Spronsen F, et al. Among authors: schwartz ivd. Genet Med. 2026 Jan 12:101683. doi: 10.1016/j.gim.2026.101683. Online ahead of print. Genet Med. 2026. PMID: 41537382 Free article.
Serum hepcidin as a biomarker of treatment response in Gaucher disease.
Koppe T, Pinheiro FC, Siebert M, Basgalupp S, Daudt LE, Schwartz IVD. Koppe T, et al. Among authors: schwartz ivd. Mol Genet Metab Rep. 2025 Sep 24;45:101255. doi: 10.1016/j.ymgmr.2025.101255. eCollection 2025 Dec. Mol Genet Metab Rep. 2025. PMID: 41050549 Free PMC article.
Clinical and genetic features of Classic Galactosemia in the south of Brazil.
Simão Medeiros L, Teixeira LF, Gomes A, Rivera I, Lorea CF, Farret L, Tirelli KM, Sebastião FM, Pasetto FB, de Souza CFM, de Oliveira Poswar F, Pinto RB, Marcano-Ruiz M, Sperb-Ludwig F, Vieira SM, Schuler-Faccini L, Schwartz IVD. Simão Medeiros L, et al. Among authors: schwartz ivd. Mol Genet Metab. 2025 Aug;145(4):109173. doi: 10.1016/j.ymgme.2025.109173. Epub 2025 Jun 9. Mol Genet Metab. 2025. PMID: 40513497
227 results