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Results: 1 to 20 of 313

Similar articles for PubMed (Select 18846669)

1.

Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.

Font-Llitjós M.

Hum Genet. 2008 Oct;124(3):317. No abstract available.

PMID:
18846669
2.

Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations.

Toivonen M, Tringham M, Kurko J, Terho P, Simell O, Heiskanen KM, Mykkänen J.

Gen Physiol Biophys. 2013 Dec;32(4):479-88. doi: 10.4149/gpb_2013050. Epub 2013 Aug 12.

PMID:
23940088
3.

Lysinuric protein intolerance can be misdiagnosed as food protein-induced enterocolitis syndrome.

Maines E, Comberiati P, Piacentini GL, Boner AL, Peroni DG.

Pediatr Allergy Immunol. 2013 Aug;24(5):509-10. doi: 10.1111/pai.12096. Epub 2013 Jun 16. No abstract available.

PMID:
23772603
4.

Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.

Güzel-Ozantürk A, Ozgül RK, Unal O, Hişmi B, Aydın Hİ, Sivri S, Tokatlı A, Coşkun T, Aksöz E, Dursun A.

Gene. 2013 Jun 1;521(2):293-5. doi: 10.1016/j.gene.2013.03.033. Epub 2013 Mar 28.

PMID:
23542076
5.

Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.

Habib A, Md Yunus Z, Azize NA, Ch'ng GS, Ong WP, Chen BC, Hsu HT, Wong KJ, Pitt J, Ngu LH.

Eur J Pediatr. 2013 Sep;172(9):1277-81. doi: 10.1007/s00431-013-1947-1. Epub 2013 Jan 29.

PMID:
23358709
6.

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

Ko JM, Shin CH, Yang SW, Seong MW, Park SS, Song J.

J Korean Med Sci. 2012 Aug;27(8):961-4. doi: 10.3346/jkms.2012.27.8.961. Epub 2012 Jul 25.

7.

Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.

Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Gatti R, Dionisi-Vici C, Martinelli D, Goffredo BM, Font-Llitjós M, Mariani F, Luisetti M, Dall'Asta V.

Mol Genet Metab. 2012 Apr;105(4):585-9. doi: 10.1016/j.ymgme.2012.01.008. Epub 2012 Jan 17.

PMID:
22325938
8.

Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).

Tringham M, Kurko J, Tanner L, Tuikkala J, Nevalainen OS, Niinikoski H, Näntö-Salonen K, Hietala M, Simell O, Mykkänen J.

Mol Genet Metab. 2012 Mar;105(3):408-15. doi: 10.1016/j.ymgme.2011.12.007. Epub 2011 Dec 16.

PMID:
22221392
9.

Early-onset hepatic fibrosis in lysinuric protein intolerance.

Shinawi M, Dietzen DJ, White FV, Sprietsma L, Weymann A.

J Pediatr Gastroenterol Nutr. 2011 Dec;53(6):695-8. doi: 10.1097/MPG.0b013e318227b02d. No abstract available.

PMID:
21716135
10.

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

Sebastio G, Sperandeo MP, Andria G.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):54-62. doi: 10.1002/ajmg.c.30287. Epub 2011 Feb 9. Review.

PMID:
21308987
11.

Gene symbol: GCDH. Disease: Glutaricacidaemia I.

Lin WD, Hwu WL, Wang CH, Chen CP, Tsai FJ.

Hum Genet. 2008 Jun;123(5):551-2. No abstract available.

PMID:
20960650
12.

[Unusual pulmonary presentation of lysinuric protein intolerance].

Berthoux E, Durieu I, Guffon N, Sivova N, Gamondes D, Cordier JF, Cottin V.

Rev Mal Respir. 2010 Sep;27(7):770-4. doi: 10.1016/j.rmr.2010.06.022. Epub 2010 Aug 6. French.

PMID:
20863980
13.

Breast milk and gene delivery: is lysinuric protein intolerance an exemplar?

Boyd CA, Shennan DB.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):296. doi: 10.1016/j.ymgme.2010.07.002. Epub 2010 Aug 1. No abstract available.

PMID:
20674423
14.

Epilepsy spectrum in cerebral creatine transporter deficiency.

Fons C, Sempere A, Sanmartí FX, Arias A, Póo P, Pineda M, Ribes A, Merinero B, Vilaseca MA, Salomons GS, Artuch R, Campistol J.

Epilepsia. 2009 Sep;50(9):2168-70. doi: 10.1111/j.1528-1167.2009.02142.x. No abstract available.

PMID:
19706062
15.

Novel human pathological mutations. Gene symbol: RHO. Disease: Retinitis pigmentosa.

Yang J.

Hum Genet. 2009 Aug;126(2):336. No abstract available.

PMID:
19694008
16.

Novel human pathological mutations. Gene symbol: F8. Disease: Hemophilia A.

Niazi G, Altaf M, Hussain R, Iqbal S.

Hum Genet. 2009 Aug;126(2):334. No abstract available.

PMID:
19694002
17.

Novel human pathological mutations. Gene symbol: APC. Disease: Adenomatous polyposis coli.

Mavrogiannis LA, Chu CE, Charlton RS.

Hum Genet. 2009 Aug;126(2):333-4. No abstract available.

PMID:
19694001
18.

Novel human pathological mutations. Gene symbol: ALAS2. Disease: sideroblastic anaemia.

Pereira JC, Barbot J, Ribeiro ML.

Hum Genet. 2009 Aug;126(2):333. No abstract available.

PMID:
19693999
19.

Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Vallespin E, Villaverde-Montero C, Gomez-Dominguez B, Auz-Alexandre CL, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2009 Aug;126(2):330. No abstract available.

PMID:
19693992
20.

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

Eggermann T.

Hum Genet. 2009 Aug;126(2):329. No abstract available.

PMID:
19693991
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