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Lysosomal storage disorders in the newborn.
Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E. Staretz-Chacham O, et al. Pediatrics. 2009 Apr;123(4):1191-207. doi: 10.1542/peds.2008-0635. Pediatrics. 2009. PMID: 19336380 Free PMC article. Review.
Pulmonary involvement in Niemann-Pick C type 1.
Staretz-Chacham O, Aviram M, Morag I, Goldbart A, Hershkovitz E. Staretz-Chacham O, et al. Eur J Pediatr. 2018 Nov;177(11):1609-1615. doi: 10.1007/s00431-018-3219-6. Epub 2018 Jul 31. Eur J Pediatr. 2018. PMID: 30066180
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S. Staretz-Chacham O, et al. J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30. J Inherit Metab Dis. 2021. PMID: 33190319
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
Staretz-Chacham O, Shukrun R, Barel O, Pode-Shakked B, Pleniceanu O, Anikster Y, Shalva N, Ferreira CR, Ben-Haim Kadosh A, Richardson J, Mane SM, Hildebrandt F, Vivante A. Staretz-Chacham O, et al. Am J Med Genet A. 2019 Oct;179(10):2112-2118. doi: 10.1002/ajmg.a.61334. Epub 2019 Aug 24. Am J Med Genet A. 2019. PMID: 31444901 Free PMC article.
42 results