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Infantile onset Pompe disease presenting with non-immune hydrops fetalis.
Lee K, Fisher R, Quinonez SC, Ahmad A. Lee K, et al. Among authors: ahmad a. Mol Genet Metab Rep. 2019 Aug 21;21:100503. doi: 10.1016/j.ymgmr.2019.100503. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31467850 Free PMC article. No abstract available.
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
McCrory NM, Edick MJ, Ahmad A, Lipinski S, Scott Schwoerer JA, Zhai S, Justice K, Cameron CA, Berry SA, Pena LD; Inborn Errors of Metabolism Collaborative. McCrory NM, et al. Among authors: ahmad a. J Pediatr. 2017 Jan;180:200-205.e8. doi: 10.1016/j.jpeds.2016.09.050. Epub 2016 Oct 21. J Pediatr. 2017. PMID: 27776753 Free PMC article.
6,395 results