Eng CM - Search Results

1

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.

Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O'Callaghan M, Desnick RJ. Eng CM, et al. Am J Hum Genet. 2001 Mar;68(3):711-22. doi: 10.1086/318809. Epub 2001 Feb 1. Am J Hum Genet. 2001. PMID: 11179018 Free PMC article. Clinical Trial.

2

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.

Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ. Glass RB, et al. Among authors: eng cm. J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68. doi: 10.1097/00004728-200403000-00002. J Comput Assist Tomogr. 2004. PMID: 15091117

3

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.

4

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.

5

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

6

Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).

Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM. Ashton-Prolla P, et al. Among authors: eng cm. Am J Med Genet. 1999 Jun 11;84(5):420-4. doi: 10.1002/(sici)1096-8628(19990611)84:5<420::aid-ajmg6>3.0.co;2-z. Am J Med Genet. 1999. PMID: 10360396

7

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.

8

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.

9

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. 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.

10

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.

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