Simell O - Search Results

1

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

Mykkänen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, Huoponen K, Heinonen M, Oksanen J, Simell O, Savontaus ML, Zorzano A, Palacín M, Aula P. Mykkänen J, et al. Among authors: simell o. Hum Mol Genet. 2000 Feb 12;9(3):431-8. doi: 10.1093/hmg/9.3.431. Hum Mol Genet. 2000. PMID: 10655553

2

Genetic homogeneity of lysinuric protein intolerance.

Lauteala T, Mykkänen J, Sperandeo MP, Gasparini P, Savontaus ML, Simell O, Andria G, Sebastio G, Aula P. Lauteala T, et al. Among authors: simell o. Eur J Hum Genet. 1998 Nov-Dec;6(6):612-5. doi: 10.1038/sj.ejhg.5200236. Eur J Hum Genet. 1998. PMID: 9887380

3

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

Torrents D, Mykkänen J, Pineda M, Feliubadaló L, Estévez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacín M. Torrents D, et al. Among authors: simell o. Nat Genet. 1999 Mar;21(3):293-6. doi: 10.1038/6809. Nat Genet. 1999. PMID: 10080182

4

Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.

Lauteala T, Mykkänen J, Horelli-Kuitunen N, Aaltonen J, Paavola P, Savontaus ML, Simell O, Aula P. Lauteala T, et al. Among authors: simell o. Hereditas. 1999;130(1):19-24. doi: 10.1111/j.1601-5223.1999.00019.x. Hereditas. 1999. PMID: 10364825 Free article.

5

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

Lauteala T, Sistonen P, Savontaus ML, Mykkänen J, Simell J, Lukkarinen M, Simell O, Aula P. Lauteala T, et al. Among authors: simell o, simell j. Am J Hum Genet. 1997 Jun;60(6):1479-86. doi: 10.1086/515457. Am J Hum Genet. 1997. PMID: 9199570 Free PMC article.

6

Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance.

Lauteala T, Horelli-Kuitunen N, Closs E, Savontaus MI, Lukkarinen M, Simell O, Cunningham J, Palotie A, Aula P. Lauteala T, et al. Among authors: simell o. Hum Genet. 1997 Jul;100(1):80-3. doi: 10.1007/s004390050469. Hum Genet. 1997. PMID: 9225973

7

Nutrient intake in lysinuric protein intolerance.

Tanner LM, Näntö-Salonen K, Venetoklis J, Kotilainen S, Niinikoski H, Huoponen K, Simell O. Tanner LM, et al. Among authors: simell o. J Inherit Metab Dis. 2007 Oct;30(5):716-21. doi: 10.1007/s10545-007-0558-2. Epub 2007 Jun 21. J Inherit Metab Dis. 2007. PMID: 17588131

8

[From avoidance of proteins to amino acid transporter gene--a long journey of lysinuric protein intolerance].

Aula P, Simell O. Aula P, et al. Among authors: simell o. Duodecim. 1999;115(21):2307-8. Duodecim. 1999. PMID: 11973863 Finnish. No abstract available.

9

Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes.

Smith DW, Scriver CR, Simell O. Smith DW, et al. Among authors: simell o. Hum Genet. 1988 Dec;80(4):395-6. doi: 10.1007/BF00273660. Hum Genet. 1988. PMID: 3143662

10

Effect of lysine infusion on urea cycle in lysinuric protein intolerance.

Lukkarinen M, Näntö-Salonen K, Pulkki K, Mattila K, Simell O. Lukkarinen M, et al. Among authors: simell o. Metabolism. 2000 May;49(5):621-5. doi: 10.1016/s0026-0495(00)80038-4. Metabolism. 2000. PMID: 10831173

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