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Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.
Am J Med Genet C Semin Med Genet. 2025 Jan 31:e32132. doi: 10.1002/ajmg.c.32132.
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Am J Med Genet A. 2024 Dec;194(12):e63825. doi: 10.1002/ajmg.a.63825. Epub 2024 Jul 26.
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In Utero Gene Therapy and its Application in Genetic Hearing Loss.
Adv Biol (Weinh). 2024 Oct;8(10):e2400193. doi: 10.1002/adbi.202400193. Epub 2024 Jul 15.
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Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
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Suppression of Hb Bart's to improve tissue oxygenation and fetal development in homozygous alpha-thalassemia.
Am J Hematol. 2024 Aug;99(8):1613-1615. doi: 10.1002/ajh.27344. Epub 2024 Apr 24.
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Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.
Ann Pediatr Endocrinol Metab. 2024 Feb;29(1):54-59. doi: 10.6065/apem.2346014.007. Epub 2024 Feb 29.
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Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Clin Chim Acta. 2023 Nov 1;551:117620. doi: 10.1016/j.cca.2023.117620. Epub 2023 Oct 29.
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Genetic and acquired sucrase-isomaltase deficiency: A clinical review.
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