Desnick RJ - Search Results

1

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.

Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Yasuda M, et al. Among authors: desnick rj. Mol Med. 2015 Jun 5;21(1):487-95. doi: 10.2119/molmed.2015.00099. Mol Med. 2015. PMID: 26062020 Free PMC article.

2

Fabry disease: an unusual cause of severe coronary disease in a young man.

Fisher EA, Desnick RJ, Gordon RE, Eng CM, Griepp R, Goldman ME. Fisher EA, et al. Among authors: desnick rj. Ann Intern Med. 1992 Aug 1;117(3):221-3. doi: 10.7326/0003-4819-117-3-221. Ann Intern Med. 1992. PMID: 1616216 No abstract available.

3

Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.

Anderson PM, Reddy RM, Anderson KE, Desnick RJ. Anderson PM, et al. Among authors: desnick rj. J Clin Invest. 1981 Jul;68(1):1-12. doi: 10.1172/jci110223. J Clin Invest. 1981. PMID: 7251856 Free PMC article.

4

Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.

Astrin KH, Desnick RJ. Astrin KH, et al. Among authors: desnick rj. Hum Mutat. 1994;4(4):243-52. doi: 10.1002/humu.1380040403. Hum Mutat. 1994. PMID: 7866402 Review.

5

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

Chen CH, Astrin KH, Lee G, Anderson KE, Desnick RJ. Chen CH, et al. Among authors: desnick rj. J Clin Invest. 1994 Nov;94(5):1927-37. doi: 10.1172/JCI117543. J Clin Invest. 1994. PMID: 7962538 Free PMC article.

6

Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.

Lee GY, Astrin KH, Desnick RJ. Lee GY, et al. Among authors: desnick rj. Am J Med Genet. 1995 Aug 28;58(2):155-8. doi: 10.1002/ajmg.1320580213. Am J Med Genet. 1995. PMID: 8533808

7

Molecular genetics of congenital erythropoietic porphyria.

Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH. Desnick RJ, et al. Semin Liver Dis. 1998;18(1):77-84. doi: 10.1055/s-2007-1007143. Semin Liver Dis. 1998. PMID: 9516681 Review.

8

Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.

De Siervi A, Rossetti MV, Parera VE, Astrin KH, Aizencang GI, Glass IA, Batlle AM, Desnick RJ. De Siervi A, et al. Among authors: desnick rj. Am J Med Genet. 1999 Oct 8;86(4):366-75. Am J Med Genet. 1999. PMID: 10494093

9

Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).

Solis C, Lopez-Echaniz I, Sefarty-Graneda D, Astrin KH, Desnick RJ. Solis C, et al. Among authors: desnick rj. Mol Med. 1999 Oct;5(10):664-71. Mol Med. 1999. PMID: 10602775 Free PMC article.

10

Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice.

Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ. Ioannou YA, et al. Among authors: desnick rj. Am J Hum Genet. 2001 Jan;68(1):14-25. doi: 10.1086/316953. Epub 2000 Dec 13. Am J Hum Genet. 2001. PMID: 11115376 Free PMC article.

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