Eng C - Search Results

1

Fabry disease revisited: Management and treatment recommendations for adult patients.

Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Ortiz A, et al. Among authors: eng c. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Mol Genet Metab. 2018. PMID: 29530533 Free article. Review.

2

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. Eng CM, et al. Genet Med. 2006 Sep;8(9):539-48. doi: 10.1097/01.gim.0000237866.70357.c6. Genet Med. 2006. PMID: 16980809 Free article. Review.

3

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Wilcox WR, et al. Among authors: eng cm. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26. Mol Genet Metab. 2008. PMID: 18037317

4

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.

Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Hopkin RJ, et al. Pediatr Res. 2008 Nov;64(5):550-5. doi: 10.1203/PDR.0b013e318183f132. Pediatr Res. 2008. PMID: 18596579

5

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Eng CM, et al. Am J Hum Genet. 1993 Dec;53(6):1186-97. Am J Hum Genet. 1993. PMID: 7504405 Free PMC article.

6

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.

Eng CM, Desnick RJ. Eng CM, et al. Hum Mutat. 1994;3(2):103-11. doi: 10.1002/humu.1380030204. Hum Mutat. 1994. PMID: 7911050 Review.

7

Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.

Caggana M, Ashley GA, Desnick RJ, Eng CM. Caggana M, et al. Among authors: eng cm. Am J Med Genet. 1997 Aug 22;71(3):329-35. Am J Med Genet. 1997. PMID: 9268104

8

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Ashley GA, et al. Among authors: eng cm. J Hum Genet. 2001;46(4):192-6. doi: 10.1007/s100380170088. J Hum Genet. 2001. PMID: 11322659 Review.

9

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ; International Collaborative Fabry Disease Study Group. Eng CM, et al. N Engl J Med. 2001 Jul 5;345(1):9-16. doi: 10.1056/NEJM200107053450102. N Engl J Med. 2001. PMID: 11439963 Free article. Clinical Trial.

10

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.

Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, Tei C, Desnick RJ. Nakao S, et al. Among authors: eng cm. Kidney Int. 2003 Sep;64(3):801-7. doi: 10.1046/j.1523-1755.2003.00160.x. Kidney Int. 2003. PMID: 12911529 Free article.

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