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For: 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. Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood. Orphanet J Rare Dis 2017;12:3. [PMID: 28057010 DOI: 10.1186/s13023-016-0550-8] [Cited by in Crossref: 57] [Cited by in F6Publishing: 59] [Article Influence: 9.5] [Reference Citation Analysis]
Number Citing Articles
1 Buschulte K, Cottin V, Wijsenbeek M, Kreuter M, Diesler R. The world of rare interstitial lung diseases. Eur Respir Rev 2023;32. [PMID: 36754433 DOI: 10.1183/16000617.0161-2022] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
2 Fakoya AOJ, Lanipekun CO, Tarzian M. Dibasic Aminoaciduria II. Genetic Syndromes 2023. [DOI: 10.1007/978-3-319-66816-1_1736-1] [Reference Citation Analysis]
3 Akyol Ş, Yılmaz Ş, Tüfekçi Ö, Arslan N, Ören H. A complication of lysinuric protein intolerance: Intermittent haemophagocytic lymphohistiocytosis. J Paediatr Child Health 2022;58:2300-1. [PMID: 35938785 DOI: 10.1111/jpc.16158] [Reference Citation Analysis]
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6 Kakisaka K, Sato T, Wada Y, Ito A, Eto H, Abe H, Kanazawa J, Yusa K, Kooka Y, Endo K, Yoshida Y, Oikawa T, Kuroda H, Miyasaka A, Akasaka M, Matsumoto T. Lactulose: A treatment for hyperammonemia in a lysinuric protein-intolerant patient with dynamic blood amino acid concentrations. Mol Genet Metab Rep 2022;32:100898. [PMID: 35865266 DOI: 10.1016/j.ymgmr.2022.100898] [Reference Citation Analysis]
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9 Huang L, Wu W, Zhu Y, Yu H, Tang L, Fang X. Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC. Front Immunol 2021;12:810677. [PMID: 35095902 DOI: 10.3389/fimmu.2021.810677] [Reference Citation Analysis]
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14 Ren A, Yin W, Miller H, Westerberg LS, Candotti F, Park CS, Lee P, Gong Q, Chen Y, Liu C. Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity. Front Immunol 2021;12:725587. [PMID: 34512655 DOI: 10.3389/fimmu.2021.725587] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
15 Stroup BM, Marom R, Li X, Hsu CW, Chang CY, Truong LD, Dawson B, Grafe I, Chen Y, Jiang MM, Lanza D, Green JR, Sun Q, Barrish JP, Ani S, Christiansen AE, Seavitt JR, Dickinson ME, Kheradmand F, Heaney JD, Lee B, Burrage LC. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. Hum Mol Genet 2020;29:2171-84. [PMID: 32504080 DOI: 10.1093/hmg/ddaa107] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
16 Avci Durmusalioglu E, Isik E, Ayyildiz Emecen D, Goksen D, Ozen S, Onay H, Kose M, Atik T, Darcan S, Cogulu O, Ozkinay F. The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis. J Pediatr Endocrinol Metab 2021;34:957-60. [PMID: 33823103 DOI: 10.1515/jpem-2021-0018] [Reference Citation Analysis]
17 Al-Qattan S, Malcolmson C, Mercimek-Andrews S. Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy. Mol Genet Metab Rep 2021;27:100741. [PMID: 33763330 DOI: 10.1016/j.ymgmr.2021.100741] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
18 Fairweather SJ, Shah N, Brӧer S. Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology. Adv Exp Med Biol 2021;21:13-127. [PMID: 33052588 DOI: 10.1007/5584_2020_584] [Cited by in Crossref: 18] [Cited by in F6Publishing: 19] [Article Influence: 9.0] [Reference Citation Analysis]
19 Root AW, Levine MA. Disorders of Mineral Metabolism II. Abnormalities of Mineral Homeostasis in the Newborn, Infant, Child, and Adolescent. Sperling Pediatric Endocrinology 2021. [DOI: 10.1016/b978-0-323-62520-3.00020-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
20 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. Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. Front Pediatr 2021;9:673957. [PMID: 34095032 DOI: 10.3389/fped.2021.673957] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
21 Hadchouel A, Drummond D, Abou Taam R, Lebourgeois M, Delacourt C, de Blic J. Alveolar proteinosis of genetic origins. Eur Respir Rev 2020;29:190187. [PMID: 33115790 DOI: 10.1183/16000617.0187-2019] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
22 Banjarnahor S, Rodionov RN, König J, Maas R. Transport of L-Arginine Related Cardiovascular Risk Markers. J Clin Med 2020;9:E3975. [PMID: 33302555 DOI: 10.3390/jcm9123975] [Cited by in Crossref: 10] [Cited by in F6Publishing: 12] [Article Influence: 3.3] [Reference Citation Analysis]
23 Demy DL, Carrère M, Noche R, Tauzin M, Le Bris M, Baek C, Leshchiner I, Goessling W, Herbomel P. The cationic amino acid exporter Slc7a7 is induced and vital in zebrafish tissue macrophages with sustained efferocytic activity. J Cell Sci 2020;133:jcs249037. [PMID: 32973110 DOI: 10.1242/jcs.249037] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
24 Olgac A, Yenicesu I, Ozgul RK, Biberoğlu G, Tümer L. Lysinuric protein intolerance: an overlooked diagnosis. Egypt J Med Hum Genet 2020;21. [DOI: 10.1186/s43042-020-00084-2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
25 Alqarajeh F, Omorodion J, Bosfield K, Shur N, Ferreira CR. Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis. Transl Sci Rare Dis 2020;5:81-6. [PMID: 33134088 DOI: 10.3233/TRD-190035] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
26 Bush A, Pabary R. Pulmonary alveolarproteinosis in children. Breathe (Sheff) 2020;16:200001. [PMID: 32684993 DOI: 10.1183/20734735.0001-2020] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
27 Demy DL, Carrère M, Noche R, Tauzin M, Le Bris M, Baek C, Yousfi M, Leshchiner I, Goessling W, Herbomel P. The cationic amino acid exporter Slc7a7 is vital for and induced in tissue macrophages with sustained efferocytic activity.. [DOI: 10.1101/2020.04.20.051664] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
28 Schulert GS, Cron RQ. The genetics of macrophage activation syndrome. Genes Immun 2020;21:169-81. [PMID: 32291394 DOI: 10.1038/s41435-020-0098-4] [Cited by in Crossref: 39] [Cited by in F6Publishing: 38] [Article Influence: 13.0] [Reference Citation Analysis]
29 Martinelli D, Schiff M, Semeraro M, Agolini E, Novelli A, Dionisi-Vici C. CUGC for lysinuric protein intolerance (LPI). Eur J Hum Genet 2020;28:1129-34. [PMID: 32249831 DOI: 10.1038/s41431-020-0617-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
30 Kuchinskaya EM, Suspitsyn EN, Kostik MM. Genetic aspects of the pathogenesis of systemic lupus erythematosus in children. Sovremennaâ revmatologiâ 2020;14:101-107. [DOI: 10.14412/1996-7012-2020-1-101-107] [Reference Citation Analysis]
31 Dimitriou C, Saliba S, Peyrassol X, Ben Abbou W, Nassogne MC, Neugroschl C, Wiame E, De Leener A, Cassart M. Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance. Clin Case Rep 2020;8:1010-4. [PMID: 32577254 DOI: 10.1002/ccr3.2780] [Reference Citation Analysis]
32 Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2020;40:24-64. [PMID: 31953710 DOI: 10.1007/s10875-019-00737-x] [Cited by in Crossref: 619] [Cited by in F6Publishing: 471] [Article Influence: 206.3] [Reference Citation Analysis]
33 Ganetzky RD, Goldstein AC. Metabolic disorders with immunologic consequences. Stiehm's Immune Deficiencies 2020. [DOI: 10.1016/b978-0-12-816768-7.00012-0] [Reference Citation Analysis]
34 Mathai SK, Schwartz DA, Borie R. Genetic Determinants of Interstitial Lung Diseases. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics 2020. [DOI: 10.1016/b978-0-12-812532-8.00015-x] [Reference Citation Analysis]
35 Spagnolo P, Miedema JR, von der Thüsen JH, Wijsenbeek MS. Trafficking and lysosomal storage disorders. Pulmonary Manifestations of Systemic Diseases 2019. [DOI: 10.1183/2312508x.10015419] [Reference Citation Analysis]
36 Rotoli BM, Barilli A, Visigalli R, Ferrari F, Dall'Asta V. y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance. J Cell Mol Med 2020;24:921-9. [PMID: 31705628 DOI: 10.1111/jcmm.14801] [Cited by in Crossref: 19] [Cited by in F6Publishing: 20] [Article Influence: 4.8] [Reference Citation Analysis]
37 Bodoy S, Sotillo F, Espino-Guarch M, Sperandeo MP, Ormazabal A, Zorzano A, Sebastio G, Artuch R, Palacín M. Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease. Int J Mol Sci 2019;20:E5294. [PMID: 31653080 DOI: 10.3390/ijms20215294] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 3.5] [Reference Citation Analysis]
38 Borie R, Le Guen P, Ghanem M, Taillé C, Dupin C, Dieudé P, Kannengiesser C, Crestani B. The genetics of interstitial lung diseases. Eur Respir Rev 2019;28:190053. [PMID: 31554702 DOI: 10.1183/16000617.0053-2019] [Cited by in Crossref: 22] [Cited by in F6Publishing: 22] [Article Influence: 5.5] [Reference Citation Analysis]
39 Kang E, Kim T, Oh A, Yum MS, Keum C, Yoo HW, Lee BH. Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14. J Hum Genet 2019;64:1137-40. [PMID: 31427715 DOI: 10.1038/s10038-019-0657-6] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
40 Ko JM, Kim WJ, Kim SY, Lee JH, Chae JH, Kim KJ, Lim BC. Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis. Brain Dev 2019;41:634-7. [PMID: 30961960 DOI: 10.1016/j.braindev.2019.03.013] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
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43 Rotoli BM, Barilli A, Ingoglia F, Visigalli R, Bianchi MG, Ferrari F, Martinelli D, Dionisi-Vici C, Dall'Asta V. Analysis of LPI-causing mutations on y+LAT1 function and localization. Orphanet J Rare Dis 2019;14:63. [PMID: 30832686 DOI: 10.1186/s13023-019-1028-2] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
44 Zelikovic I. Hereditary Tubulopathies. Nephrology and Fluid/electrolyte Physiology 2019. [DOI: 10.1016/b978-0-323-53367-6.00019-4] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
45 Karageorgos S, Bassiri H. Genetics of Primary Hemophagocytic Lymphohistiocytosis. Cytokine Storm Syndrome 2019. [DOI: 10.1007/978-3-030-22094-5_6] [Reference Citation Analysis]
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47 Ehl S, Astigarraga I, von Bahr Greenwood T, Hines M, Horne A, Ishii E, Janka G, Jordan MB, La Rosée P, Lehmberg K, Machowicz R, Nichols KE, Sieni E, Wang Z, Henter JI. Recommendations for the Use of Etoposide-Based Therapy and Bone Marrow Transplantation for the Treatment of HLH: Consensus Statements by the HLH Steering Committee of the Histiocyte Society. J Allergy Clin Immunol Pract 2018;6:1508-17. [PMID: 30201097 DOI: 10.1016/j.jaip.2018.05.031] [Cited by in Crossref: 70] [Cited by in F6Publishing: 80] [Article Influence: 14.0] [Reference Citation Analysis]
48 Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM. Aminoacyl-tRNA synthetase deficiencies in search of common themes. Genet Med. 2019;21:319-330. [PMID: 29875423 DOI: 10.1038/s41436-018-0048-y] [Cited by in Crossref: 46] [Cited by in F6Publishing: 57] [Article Influence: 9.2] [Reference Citation Analysis]
49 Rotoli BM, Barilli A, Visigalli R, Ingoglia F, Milioli M, Di Lascia M, Riccardi B, Puccini P, Dall'Asta V. Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells. Front Immunol 2018;9:508. [PMID: 29616026 DOI: 10.3389/fimmu.2018.00508] [Cited by in Crossref: 21] [Cited by in F6Publishing: 22] [Article Influence: 4.2] [Reference Citation Analysis]
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51 Ouederni M, Ben Khaled M, Rekaya S, Ben Fraj I, Mellouli F, Bejaoui M. A nine-month-old-boy with Atypical Hemophagocytic Lymphohistiocytosis. Mediterr J Hematol Infect Dis 2017;9:e2017057. [PMID: 29181134 DOI: 10.4084/MJHID.2017.057] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
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