166 related articles for article (PubMed ID: 37528333)
1. Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report.
Lokuhewage C; Pathiraja H; Madawala P; Bandara S; Mettananda S
BMC Pediatr; 2023 Aug; 23(1):382. PubMed ID: 37528333
[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. 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]
4. 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]
5. The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.
Avci Durmusalioglu E; Isik E; Ayyildiz Emecen D; Goksen D; Ozen S; Onay H; Kose M; Atik T; Darcan S; Cogulu O; Ozkinay F
J Pediatr Endocrinol Metab; 2021 Jul; 34(7):957-960. PubMed ID: 33823103
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Lysinuric dibasic protein intolerance: characteristic aspects of bone marrow involvement].
Doireau V; Fenneteau O; Duval M; Perelman S; Vilmer E; Touati G; Schlegel N; Ogier de Baulny H
Arch Pediatr; 1996 Sep; 3(9):877-80. PubMed ID: 8949349
[TBL] [Abstract][Full Text] [Related]
8. [Lysinuric protein intolerance].
Behbehani AW; Gahr M; Schröter W
Monatsschr Kinderheilkd; 1983 Nov; 131(11):784-7. PubMed ID: 6420670
[TBL] [Abstract][Full Text] [Related]
9. 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]
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. 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]
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. Lysinuric Protein Intolerance Presenting with Multiple Fractures.
Posey JE; Burrage LC; Miller MJ; Liu P; Hardison MT; Elsea SH; Sun Q; Yang Y; Willis AS; Schlesinger AE; Bacino CA; Lee BH
Mol Genet Metab Rep; 2014; 1():176-183. PubMed ID: 25419514
[TBL] [Abstract][Full Text] [Related]
14. Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Mauhin W; Habarou F; Gobin S; Servais A; Brassier A; Grisel C; Roda C; Pinto G; Moshous D; Ghalim F; Krug P; Deltour N; Pontoizeau C; Dubois S; Assoun M; Galmiche L; Bonnefont JP; Ottolenghi C; de Blic J; Arnoux JB; de Lonlay P
Orphanet J Rare Dis; 2017 Jan; 12(1):3. PubMed ID: 28057010
[TBL] [Abstract][Full Text] [Related]
15. Growth hormone deficiency in a patient with lysinuric protein intolerance.
Esposito V; Lettiero T; Fecarotta S; Sebastio G; Parenti G; Salerno M
Eur J Pediatr; 2006 Nov; 165(11):763-6. PubMed ID: 16775724
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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
Nat Genet; 1999 Mar; 21(3):293-6. PubMed ID: 10080182
[TBL] [Abstract][Full Text] [Related]
18. Lung involvement in children with lysinuric protein intolerance.
Valimahamed-Mitha S; Berteloot L; Ducoin H; Ottolenghi C; de Lonlay P; de Blic J
J Inherit Metab Dis; 2015 Mar; 38(2):257-63. PubMed ID: 25335805
[TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic features of lysinuric protein intolerance in Japan.
Noguchi A; Nakamura K; Murayama K; Yamamoto S; Komatsu H; Kizu R; Takayanagi M; Okuyama T; Endo F; Takasago Y; Shoji Y; Takahashi T
Pediatr Int; 2016 Oct; 58(10):979-983. PubMed ID: 26865117
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
