Knappskog PM - Search Results

1

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Håvik B, Tønder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM. Fiskerstrand T, et al. Among authors: knappskog pm. N Engl J Med. 2012 Apr 26;366(17):1586-95. doi: 10.1056/NEJMoa1110132. Epub 2012 Mar 21. N Engl J Med. 2012. PMID: 22436048 Free article.

2

A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.

Eiken HG, Knappskog PM, Apold J, Skjelkvåle L, Boman H. Eiken HG, et al. Among authors: knappskog pm. Hum Mutat. 1992;1(5):388-91. doi: 10.1002/humu.1380010507. Hum Mutat. 1992. PMID: 1301947

3

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.

Eiken HG, Stangeland K, Skjelkvåle L, Knappskog PM, Boman H, Apold J. Eiken HG, et al. Among authors: knappskog pm. Hum Genet. 1992 Mar;88(6):608-12. doi: 10.1007/BF02265283. Hum Genet. 1992. PMID: 1312992

4

The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.

Knappskog PM, Eiken HG, Martinez A, Flatmark T, Apold J. Knappskog PM, et al. Hum Genet. 1995 Feb;95(2):171-3. doi: 10.1007/BF00209396. Hum Genet. 1995. PMID: 7860062

5

Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzyme.

Martinez A, Knappskog PM, Olafsdottir S, Døskeland AP, Eiken HG, Svebak RM, Bozzini M, Apold J, Flatmark T. Martinez A, et al. Among authors: knappskog pm. Biochem J. 1995 Mar 1;306 ( Pt 2)(Pt 2):589-97. doi: 10.1042/bj3060589. Biochem J. 1995. PMID: 7887915 Free PMC article.

6

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Olsen TC, Eiken HG, Knappskog PM, Kase BF, Månsson JE, Boman H, Apold J. Olsen TC, et al. Among authors: knappskog pm. Hum Genet. 1996 Feb;97(2):198-203. doi: 10.1007/BF02265265. Hum Genet. 1996. PMID: 8566953

7

DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations.

Eiken HG, Knappskog PM, Guldberg P, Apold J. Eiken HG, et al. Among authors: knappskog pm. Hum Mutat. 1996;8(1):19-22. doi: 10.1002/(SICI)1098-1004(1996)8:1<19::AID-HUMU2>3.0.CO;2-K. Hum Mutat. 1996. PMID: 8807331 No abstract available.

8

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.

Eiken HG, Knappskog PM, Apold J, Flatmark T. Eiken HG, et al. Among authors: knappskog pm. Hum Mutat. 1996;7(3):228-38. doi: 10.1002/(SICI)1098-1004(1996)7:3<228::AID-HUMU7>3.0.CO;2-6. Hum Mutat. 1996. PMID: 8829656

9

Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.

Eiken HG, Knappskog PM, Motzfeldt K, Boman H, Apold J. Eiken HG, et al. Among authors: knappskog pm. Eur J Pediatr. 1996 Jul;155(7):554-60. doi: 10.1007/BF01957904. Eur J Pediatr. 1996. PMID: 8831077

10

Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.

Eiken HG, Knappskog PM, Boman H, Thune KS, Kaada G, Motzfeldt K, Apold J. Eiken HG, et al. Among authors: knappskog pm. Eur J Hum Genet. 1996;4(4):205-13. doi: 10.1159/000472200. Eur J Hum Genet. 1996. PMID: 8875186

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