155 related articles for article (PubMed ID: 23358709)
1. 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. PubMed ID: 23358709
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 22876067
[TBL] [Abstract][Full Text] [Related]
3. New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
Zhang G; Cao L
Pediatr Pulmonol; 2017 Nov; 52(11):E94-E96. PubMed ID: 29058386
[TBL] [Abstract][Full Text] [Related]
4. [Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
Cui D; Hu YH; Tang G; Shen D; Chen L; Liao JX; Chen SL
Zhongguo Dang Dai Er Ke Za Zhi; 2019 Apr; 21(4):375-380. PubMed ID: 31014432
[TBL] [Abstract][Full Text] [Related]
5. In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.
Barilli A; Rotoli BM; Visigalli R; Bussolati O; Gazzola GC; Kadija Z; Rodi G; Mariani F; Ruzza ML; Luisetti M; Dall'Asta V
Orphanet J Rare Dis; 2010 Nov; 5():32. PubMed ID: 21110863
[TBL] [Abstract][Full Text] [Related]
6. Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Font-Llitjós M; Rodríguez-Santiago B; Espino M; Sillué R; Mañas S; Gómez L; Pérez-Jurado LA; Palacín M; Nunes V
Eur J Hum Genet; 2009 Jan; 17(1):71-9. PubMed ID: 18716612
[TBL] [Abstract][Full Text] [Related]
7. A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
Sperandeo MP; Paladino S; Maiuri L; Maroupulos GD; Zurzolo C; Taglialatela M; Andria G; Sebastio G
Eur J Hum Genet; 2005 May; 13(5):628-34. PubMed ID: 15756301
[TBL] [Abstract][Full Text] [Related]
8. Analysis of LPI-causing mutations on y+LAT1 function and localization.
Rotoli BM; Barilli A; Ingoglia F; Visigalli R; Bianchi MG; Ferrari F; Martinelli D; Dionisi-Vici C; Dall'Asta V
Orphanet J Rare Dis; 2019 Mar; 14(1):63. PubMed ID: 30832686
[TBL] [Abstract][Full Text] [Related]
9. Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.
IJzermans T; van der Meijden W; Hoeks M; Huigen M; Rennings A; Nijenhuis T
Am J Kidney Dis; 2023 Apr; 81(4):493-496. PubMed ID: 36223829
[TBL] [Abstract][Full Text] [Related]
10. Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
Kang E; Kim T; Oh A; Yum MS; Keum C; Yoo HW; Lee BH
J Hum Genet; 2019 Nov; 64(11):1137-1140. PubMed ID: 31427715
[TBL] [Abstract][Full Text] [Related]
11. Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance.
Habib A; Azize NA; Yakob Y; Md Yunus Z; Wee TK
Malays J Pathol; 2016 Dec; 38(3):305-310. PubMed ID: 28028301
[TBL] [Abstract][Full Text] [Related]
12. 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; 521(2):293-5. PubMed ID: 23542076
[TBL] [Abstract][Full Text] [Related]
13. Homocitrullinuria and homoargininuria in lysinuric protein intolerance.
Kato T; Sano M; Mizutani N
J Inherit Metab Dis; 1989; 12(2):157-61. PubMed ID: 2474087
[TBL] [Abstract][Full Text] [Related]
14. Unusual association between lysinuric protein intolerance and moyamoya vasculopathy.
Ghilain V; Wiame E; Fomekong E; Vincent MF; Dumitriu D; Nassogne MC
Eur J Paediatr Neurol; 2016 Sep; 20(5):777-81. PubMed ID: 27321952
[TBL] [Abstract][Full Text] [Related]
15. Increased NO production in lysinuric protein intolerance.
Mannucci L; Emma F; Markert M; Bachmann C; Boulat O; Carrozzo R; Rizzoni G; Dionisi-Vici C
J Inherit Metab Dis; 2005; 28(2):123-9. PubMed ID: 15877200
[TBL] [Abstract][Full Text] [Related]
16. 1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance.
Esseghir N; Bouchlaka CS; Fredj SH; Ben Chehida A; Azzouz H; Fontaine M; Tebib N; Briand G; Messaoud T; Elgaaied AB; Kaabachi N
Clin Lab; 2015; 61(12):1973-7. PubMed ID: 26882824
[TBL] [Abstract][Full Text] [Related]
17. Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
Matsukawa Y; Sakamoto K; Ikeda Y; Taga T; Kosaki K; Maruo Y
Int J Hematol; 2022 Oct; 116(4):635-638. PubMed ID: 35532875
[TBL] [Abstract][Full Text] [Related]
18. y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
Rotoli BM; Barilli A; Visigalli R; Ferrari F; Dall'Asta V
J Cell Mol Med; 2020 Jan; 24(1):921-929. PubMed ID: 31705628
[TBL] [Abstract][Full Text] [Related]
19. Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance.
Rajantie J; Simell O; Perheentupa J
J Pediatr; 1983 Mar; 102(3):388-90. PubMed ID: 6402575
[TBL] [Abstract][Full Text] [Related]
20. Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A; Takahashi T
J Hum Genet; 2019 Sep; 64(9):849-858. PubMed ID: 31213652
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
