Plotz PH - Search Results

1

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

Becker JA, Vlach J, Raben N, Nagaraju K, Adams EM, Hermans MM, Reuser AJ, Brooks SS, Tifft CJ, Hirschhorn R, Huie ML, Nicolino M, Plotz PH. Becker JA, et al. Among authors: plotz ph. Am J Hum Genet. 1998 Apr;62(4):991-4. doi: 10.1086/301788. Am J Hum Genet. 1998. PMID: 9529346 Free PMC article. No abstract available.

2

Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM, Eng CM, Cowan TM, Plotz PH. Sherman JB, et al. Among authors: plotz ph. Am J Hum Genet. 1994 Aug;55(2):305-13. Am J Hum Genet. 1994. PMID: 8037209 Free PMC article.

3

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

Raben N, Nichols RC, Martiniuk F, Plotz PH. Raben N, et al. Among authors: plotz ph. Hum Mol Genet. 1996 Jul;5(7):995-1000. doi: 10.1093/hmg/5.7.995. Hum Mol Genet. 1996. PMID: 8817337

4

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.

Adams EM, Becker JA, Griffith L, Segal A, Plotz PH, Raben N. Adams EM, et al. Among authors: plotz ph. Hum Mutat. 1997;10(2):128-34. doi: 10.1002/(SICI)1098-1004(1997)10:2<128::AID-HUMU5>3.0.CO;2-G. Hum Mutat. 1997. PMID: 9259196

5

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.

Raben N, Lee E, Lee L, Hirschhorn R, Plotz PH. Raben N, et al. Among authors: plotz ph. Hum Mutat. 1999;13(1):83-4. doi: 10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2. Hum Mutat. 1999. PMID: 10189220

6

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

Raben N, Exelbert R, Spiegel R, Sherman JB, Nakajima H, Plotz P, Heinisch J. Raben N, et al. Am J Hum Genet. 1995 Jan;56(1):131-41. Am J Hum Genet. 1995. PMID: 7825568 Free PMC article.

7

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N. Boerkoel CF, et al. Among authors: plotz ph. Am J Hum Genet. 1995 Apr;56(4):887-97. Am J Hum Genet. 1995. PMID: 7717400 Free PMC article.

8

Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene.

Yan B, Raben N, Lu N, Plotz PH. Yan B, et al. Among authors: plotz ph. Hum Genet. 2001 Aug;109(2):186-90. doi: 10.1007/s004390100562. Hum Genet. 2001. PMID: 11511924

9

Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N. Nichols RC, et al. Among authors: plotz ph. Am J Hum Genet. 1996 Jul;59(1):59-65. Am J Hum Genet. 1996. PMID: 8659544 Free PMC article.

10

Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.

Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, Codd WJ, Hanna B, Alcabes P, Raben N, Plotz P. Martiniuk F, et al. Am J Med Genet. 1998 Aug 27;79(1):69-72. doi: 10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9738873 No abstract available.

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