These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 25419514)

  • 21. 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]  

  • 22. 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]  

  • 23. Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.
    Contreras JL; Ladino MA; Aránguiz K; Mendez GP; Coban-Akdemir Z; Yuan B; Gibbs RA; Burrage LC; Lupski JR; Chinn IK; Vogel TP; Orange JS; Poli MC
    Front Pediatr; 2021; 9():673957. PubMed ID: 34095032
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
    Sperandeo MP; Annunziata P; Bozzato A; Piccolo P; Maiuri L; D'Armiento M; Ballabio A; Corso G; Andria G; Borsani G; Sebastio G
    Am J Physiol Cell Physiol; 2007 Jul; 293(1):C191-8. PubMed ID: 17376816
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Children with lysinuric protein intolerance: Experience from a lower middle income country.
    Hashmi SB; Ahmed S
    World J Clin Pediatr; 2022 Jul; 11(4):369-374. PubMed ID: 36052112
    [TBL] [Abstract][Full Text] [Related]  

  • 26. SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.
    Noguchi A; Shoji Y; Koizumi A; Takahashi T; Matsumori M; Kayo T; Ohata T; Wada Y; Yoshimura I; Maisawa S; Konishi M; Takasago Y; Takada G
    Hum Mutat; 2000; 15(4):367-72. PubMed ID: 10737982
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family.
    Pang Y; Huo F; Liu X; Fan Y; Zhang Z; Wu J; Wang Q
    Pediatr Investig; 2024 Jun; 8(2):149-153. PubMed ID: 38910857
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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. PubMed ID: 22221392
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
    Sperandeo MP; Annunziata P; Ammendola V; Fiorito V; Pepe A; Soldovieri MV; Taglialatela M; Andria G; Sebastio G
    Hum Mutat; 2005 Apr; 25(4):410. PubMed ID: 15776427
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.
    Carpentieri D; Barnhart MF; Aleck K; Miloh T; deMello D
    Mol Genet Metab Rep; 2015 Mar; 2():47-50. PubMed ID: 28649527
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.
    Estève E; Krug P; Hummel A; Arnoux JB; Boyer O; Brassier A; de Lonlay P; Vuiblet V; Gobin S; Salomon R; Piètrement C; Bonnefont JP; Servais A; Galmiche L
    Hum Pathol; 2017 Apr; 62():160-169. PubMed ID: 28087478
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.
    Puomila K; Simell O; Huoponen K; Mykkänen J
    Mol Genet Metab; 2007 Mar; 90(3):298-306. PubMed ID: 17196863
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
    Sperandeo MP; Andria G; Sebastio G
    Hum Mutat; 2008 Jan; 29(1):14-21. PubMed ID: 17764084
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. [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]  

  • 39. Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.
    Stroup BM; Li X; Ho S; Zhouyao H; Chen Y; Ani S; Dawson B; Jin Z; Marom R; Jiang MM; Lorenzo I; Rosen D; Lanza D; Aceves N; Koh S; Seavitt JR; Heaney JD; Lee B; Burrage LC
    Dis Model Mech; 2023 Aug; 16(8):. PubMed ID: 37486182
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI).
    Kurko J; Tringham M; Tanner L; Näntö-Salonen K; Vähä-Mäkilä M; Nygren H; Pöhö P; Lietzen N; Mattila I; Olkku A; Hyötyläinen T; Orešič M; Simell O; Niinikoski H; Mykkänen J
    Metabolism; 2016 Sep; 65(9):1361-75. PubMed ID: 27506743
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.