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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,328 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions.
Vibert B, Segura P, Gallagher L, Georgiades S, Pervanidou P, Thurm A, Alexander L, Anagnostou E, Aoki Y, Birken CS, Bishop SL, Boi J, Bravaccio C, Brentani H, Canevini P, Carta A, Charach A, Costantino A, Cost KT, Cravo EA, Crosbie J, Davico C, Donno F, Fujino J, Gabellone A, Geyer CT, Hirota T, Kanne S, Kawashima M, Kelley E, Kim H, Kim YS, Kim SH, Korczak DJ, Lai MC, Margari L, Marzulli L, Masi G, Mazzone L, McGrath J, Monga S, Morosini P, Nakajima S, Narzisi A, Nicolson R, Nikolaidis A, Noda Y, Nowell K, Polizzi M, Portolese J, Riccio MP, Saito M, Schwartz I, Simhal AK, Siracusano M, Sotgiu S, Stroud J, Sumiya F, Tachibana Y, Takahashi N, Takahashi R, Tamon H, Tancredi R, Vitiello B, Zuddas A, Leventhal B, Merikangas K, Milham MP, Di Martino A. Vibert B, et al. Among authors: schwartz i. Mol Autism. 2023 Feb 14;14(1):7. doi: 10.1186/s13229-022-00536-z. Mol Autism. 2023. PMID: 36788583 Free PMC article.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Yıldız Y, et al. Among authors: schwartz ivd. J Inherit Metab Dis. 2024 May;47(3):431-446. doi: 10.1002/jimd.12658. Epub 2023 Jul 24. J Inherit Metab Dis. 2024. PMID: 37452721
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Adang LA, et al. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20. J Inherit Metab Dis. 2020. PMID: 32749716 Free PMC article.
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.
1,328 results