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Year Number of Results
1976 1
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2006 1
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38 results

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Page 1
Arginase Deficiency.
Sun A, Crombez EA, Wong D. Sun A, et al. Among authors: crombez ea. 2004 Oct 21 [updated 2020 May 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2004 Oct 21 [updated 2020 May 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301338 Free Books & Documents. Review.
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
Weinstein DA, Derks TG, Rodriguez-Buritica DF, Ahmad A, Couce ML, Mitchell JJ, Riba-Wolman R, Mount M, Sallago JB, Ross KM, van der Klauw MM, de Boer F, van der Schaaf C, Saavedra H, Martínez-Olmos M, Atanga E, Hosseini A, Mitragotri D, Crombez E. Weinstein DA, et al. Among authors: crombez e. J Inherit Metab Dis. 2025 Mar;48(2):e70014. doi: 10.1002/jimd.70014. J Inherit Metab Dis. 2025. PMID: 40064185 Free PMC article. Clinical Trial.
Hyperargininemia due to liver arginase deficiency.
Crombez EA, Cederbaum SD. Crombez EA, et al. Mol Genet Metab. 2005 Mar;84(3):243-51. doi: 10.1016/j.ymgme.2004.11.004. Epub 2004 Dec 19. Mol Genet Metab. 2005. PMID: 15694174 Review.
Pitfalls in newborn screening.
Crombez E, Koch R, Cederbaum S. Crombez E, et al. J Pediatr. 2005 Jul;147(1):119-20. doi: 10.1016/j.jpeds.2005.03.041. J Pediatr. 2005. PMID: 16027710 No abstract available.
Metachromatic Leukodystrophy: An Assessment of Disease Burden.
Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A. Eichler FS, et al. Among authors: crombez e. J Child Neurol. 2016 Nov;31(13):1457-1463. doi: 10.1177/0883073816656401. Epub 2016 Jul 7. J Child Neurol. 2016. PMID: 27389394
Central pain: an overview.
Devulder J, Crombez E, Mortier E. Devulder J, et al. Among authors: crombez e. Acta Neurol Belg. 2002 Sep;102(3):97-103. Acta Neurol Belg. 2002. PMID: 12400247 Review.
Expanded newborn screening identifies maternal primary carnitine deficiency.
Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N. Schimmenti LA, et al. Among authors: crombez ea. Mol Genet Metab. 2007 Apr;90(4):441-5. doi: 10.1016/j.ymgme.2006.10.003. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17126586
Pharmacokinetics of sapropterin in patients with phenylketonuria.
Feillet F, Clarke L, Meli C, Lipson M, Morris AA, Harmatz P, Mould DR, Green B, Dorenbaum A, Giovannini M, Foehr E; Sapropterin Research Group. Feillet F, et al. Clin Pharmacokinet. 2008;47(12):817-25. doi: 10.2165/0003088-200847120-00006. Clin Pharmacokinet. 2008. PMID: 19026037 Clinical Trial.
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. Zimran A, et al. Among authors: crombez e. Am J Hematol. 2013 Mar;88(3):172-8. doi: 10.1002/ajh.23383. Epub 2013 Jan 22. Am J Hematol. 2013. PMID: 23339116 Free PMC article. Clinical Trial.
38 results