Reichardt JK - Search Results

1

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.

Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T. Okano Y, et al. Among authors: reichardt jk. Am J Hum Genet. 2001 Apr;68(4):1036-42. doi: 10.1086/319512. Epub 2001 Feb 23. Am J Hum Genet. 2001. PMID: 11231902 Free PMC article.

2

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.

Kobayashi K, Bang Lu Y, Xian Li M, Nishi I, Hsiao KJ, Choeh K, Yang Y, Hwu WL, Reichardt JK, Palmieri F, Okano Y, Saheki T. Kobayashi K, et al. Among authors: reichardt jk. Mol Genet Metab. 2003 Nov;80(3):356-9. doi: 10.1016/S1096-7192(03)00140-9. Mol Genet Metab. 2003. PMID: 14680984

3

Molecular characterization of galactosemia (type 1) mutations in Japanese.

Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin HC, Reichardt JK, Isshiki G. Ashino J, et al. Among authors: reichardt jk. Hum Mutat. 1995;6(1):36-43. doi: 10.1002/humu.1380060108. Hum Mutat. 1995. PMID: 7550229

4

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.

Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, Okano Y, Reichardt J. Maceratesi P, et al. Mol Genet Metab. 1998 Jan;63(1):26-30. doi: 10.1006/mgme.1997.2645. Mol Genet Metab. 1998. PMID: 9538513

5

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ 2nd, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD. Tyfield L, et al. Hum Mutat. 1999;13(6):417-30. doi: 10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0. Hum Mutat. 1999. PMID: 10408771 Review.

6

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

Reichardt JK, Packman S, Woo SL. Reichardt JK, et al. Am J Hum Genet. 1991 Oct;49(4):860-7. Am J Hum Genet. 1991. PMID: 1897530 Free PMC article.

7

On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

Lin HC, Kirby LT, Ng WG, Reichardt JK. Lin HC, et al. Among authors: reichardt jk. Hum Genet. 1994 Feb;93(2):167-9. doi: 10.1007/BF00210604. Hum Genet. 1994. PMID: 8112740

8

Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.

Gathof BS, Sommer M, Podskarbi T, Reichardt J, Braun A, Gresser U, Shin YS. Gathof BS, et al. Hum Genet. 1995 Dec;96(6):721-5. doi: 10.1007/BF00210306. Hum Genet. 1995. PMID: 8522334

9

Mutations in galactosemia.

Reichardt JK. Reichardt JK. Am J Hum Genet. 1995 Oct;57(4):978-81. Am J Hum Genet. 1995. PMID: 7573066 Free PMC article. No abstract available.

10

Biochemical and molecular studies of 132 patients with galactosemia.

Ng WG, Xu YK, Kaufman FR, Donnell GN, Wolff J, Allen RJ, Koritala S, Reichardt JK. Ng WG, et al. Among authors: reichardt jk. Hum Genet. 1994 Oct;94(4):359-63. doi: 10.1007/BF00201593. Hum Genet. 1994. PMID: 7927329 Free article.

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