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

47 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.
Dolgin V, Chabosseau P, Bistritzer J, Noyman I, Staretz-Chacham O, Wormser O, Hadar N, Eskin-Schwartz M, Kanengisser-Pines B, Narkis G, Abramsky R, Shany E, Rutter GA, Marks K, Birk OS. Dolgin V, et al. Among authors: staretz chacham o. JIMD Rep. 2025 Jan 9;66(1):e12465. doi: 10.1002/jmd2.12465. eCollection 2025 Jan. JIMD Rep. 2025. PMID: 39790720 Free PMC article.
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Rock R, Rock O, Daas S, Biton-Regev V, Sagiv N, Salah NA, Anikster Y, Barel O, Cohen RH, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Herskovitz E, Josefsberg S, Khammash H, Kneller K, Korman SH, Landau YE, Lerman-Sagie T, Mandel H, Pras E, Reznik-Wolf H, Shaag A, Lotan NS, Spiegel R, Tal G, Staretz-Chacham O, Wilnai Y, Almashanu S. Rock R, et al. Among authors: staretz chacham o. J Inherit Metab Dis. 2025 Jan;48(1):e12800. doi: 10.1002/jimd.12800. Epub 2024 Sep 24. J Inherit Metab Dis. 2025. PMID: 39318119
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.
Pode-Shakked B, Landau YE, Shaul Lotan N, Manor J, Haham N, Kristal E, Hershkovitz E, Hazan G, Haham Y, Almashanu S, Anikster Y, Staretz-Chacham O. Pode-Shakked B, et al. Among authors: staretz chacham o. J Inherit Metab Dis. 2024 Sep;47(5):895-902. doi: 10.1002/jimd.12778. Epub 2024 Jul 23. J Inherit Metab Dis. 2024. PMID: 39040027
Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50.
Paz E, Jain S, Gottfried I, Staretz-Chacham O, Mahajnah M, Bagchi P, Seyfried NT, Ashery U, Azem A. Paz E, et al. Among authors: staretz chacham o. bioRxiv [Preprint]. 2024 Sep 21:2024.05.20.594480. doi: 10.1101/2024.05.20.594480. bioRxiv. 2024. Update in: Elife. 2024 Dec 16;13:RP99914. doi: 10.7554/eLife.99914 PMID: 38826427 Free PMC article. Updated. Preprint.
Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial.
Sharma R, Hastings C, Staretz-Chacham O, Raiman J, Paucar M, Spiegel R, Murray B, Hurst B, Liu B, Kjems L, Hrynkow S. Sharma R, et al. Among authors: staretz chacham o. Mol Genet Metab Rep. 2023 Jun 29;36:100988. doi: 10.1016/j.ymgmr.2023.100988. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37670901 Free PMC article.
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran A, Proskorovski-Ohayon R, Eskin-Schwartz M, Yogev Y, Drabkin M, Eremenko E, Aharoni S, Freund O, Jean MM, Agam N, Hadar N, Loewenthal N, Staretz-Chacham O, Birk OS. Safran A, et al. Among authors: staretz chacham o. J Inherit Metab Dis. 2023 Jul;46(4):744-755. doi: 10.1002/jimd.12594. Epub 2023 Feb 9. J Inherit Metab Dis. 2023. PMID: 36695547
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S. Daas S, et al. Among authors: staretz chacham o. J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20. J Inherit Metab Dis. 2023. PMID: 36515074
47 results