PubMed (Bookshelf cited) for id: 75704

Year	Number of Results
1999	2
2000	3
2002	1
2004	1
2005	1
2006	1
2007	3
2008	3
2009	2
2010	4
2011	4
2014	1
2015	4
2016	3
2017	2
2024	0

1

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. Carpentieri D, et al. Mol Genet Metab Rep. 2015 Jan 10;2:47-50. doi: 10.1016/j.ymgmr.2014.12.005. eCollection 2015 Mar. Mol Genet Metab Rep. 2015. PMID: 28649527 Free PMC article.

2

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. Estève E, et al. Hum Pathol. 2017 Apr;62:160-169. doi: 10.1016/j.humpath.2016.12.021. Epub 2017 Jan 11. Hum Pathol. 2017. PMID: 28087478

3

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. Mauhin W, et al. Orphanet J Rare Dis. 2017 Jan 5;12(1):3. doi: 10.1186/s13023-016-0550-8. Orphanet J Rare Dis. 2017. PMID: 28057010 Free PMC article.

4

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. Noguchi A, et al. Pediatr Int. 2016 Oct;58(10):979-983. doi: 10.1111/ped.12946. Epub 2016 Jun 8. Pediatr Int. 2016. PMID: 26865117

5

Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.

Nicolas C, Bednarek N, Vuiblet V, Boyer O, Brassier A, De Lonlay P, Galmiche L, Krug P, Baudouin V, Pichard S, Schiff M, Pietrement C. Nicolas C, et al. JIMD Rep. 2016;29:11-17. doi: 10.1007/8904_2015_509. Epub 2015 Nov 26. JIMD Rep. 2016. PMID: 26608393 Free PMC article.

6

Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI.

Kärki M, Näntö-Salonen K, Niinikoski H, Tanner LM. Kärki M, et al. JIMD Rep. 2016;25:47-55. doi: 10.1007/8904_2015_465. Epub 2015 Jun 30. JIMD Rep. 2016. PMID: 26122628 Free PMC article.

7

Lung involvement in children with lysinuric protein intolerance.

Valimahamed-Mitha S, Berteloot L, Ducoin H, Ottolenghi C, de Lonlay P, de Blic J. Valimahamed-Mitha S, et al. J Inherit Metab Dis. 2015 Mar;38(2):257-63. doi: 10.1007/s10545-014-9777-5. Epub 2014 Oct 22. J Inherit Metab Dis. 2015. PMID: 25335805

8

Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance.

Niinikoski H, Lapatto R, Nuutinen M, Tanner L, Simell O, Näntö-Salonen K. Niinikoski H, et al. JIMD Rep. 2011;1:43-7. doi: 10.1007/8904_2011_15. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430827 Free PMC article.

9

First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance.

Esseghir N, Bouchlaka CS, Fredj SH, Chehida AB, Azzouz H, Fontaine M, Tebib N, Dridi MF, Briand G, Messaoud T, Elgaaied AB, Kaabachi N. Esseghir N, et al. JIMD Rep. 2011;1:37-8. doi: 10.1007/8904_2011_13. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430825 Free PMC article.

10

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

Sebastio G, Sperandeo MP, Andria G. Sebastio G, et al. 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. Am J Med Genet C Semin Med Genet. 2011. PMID: 21308987 Review.

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