Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1975 1
1980 1
1984 1
1989 1
1990 1
1993 1
1995 1
1996 1
1998 2
1999 1
2000 2
2003 1
2004 1
2007 3
2011 1
2012 2
2014 1
2015 2
2016 2
2017 1
2018 3
2019 2
2020 1
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

34 results

Results by year

Filters applied: . Clear all
Page 1
Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A, Takahashi T. Noguchi A, et al. J Hum Genet. 2019 Sep;64(9):849-858. doi: 10.1038/s10038-019-0620-6. Epub 2019 Jun 18. J Hum Genet. 2019. PMID: 31213652 Review.
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnormality of y(+)L amino acid transporter-1 (y(+) LAT-1). LPI is associated with autosomal recessive inheritance and pathologic …
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the …
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.
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. ...Two major complications, pulmonary alveolar proteinosis and renal d …
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at …
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
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder affecting the transport of cationic amino acid caused by mutations in solute carrier family 7 amino acid transporter light chain, y(+) L system, member 7 (SLC7A7). ...CONCL …
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder affecting the transport of catio …
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance.
Tanner LM, Näntö-Salonen K, Niinikoski H, Jahnukainen T, Keskinen P, Saha H, Kananen K, Helanterä A, Metso M, Linnanvuo M, Huoponen K, Simell O. Tanner LM, et al. J Pediatr. 2007 Jun;150(6):631-4, 634.e1. doi: 10.1016/j.jpeds.2007.01.043. J Pediatr. 2007. PMID: 17517249
OBJECTIVE: To analyze systemically the prevalence of renal involvement in a cohort of Finnish patients with lysinuric protein intolerance (LPI) and to describe the course and outcome of end-stage renal disease in 4 patients. STUDY DESIGN: The clinical informa …
OBJECTIVE: To analyze systemically the prevalence of renal involvement in a cohort of Finnish patients with lysinuric protein …
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
BACKGROUND AND OBJECTIVES: Lysinuric protein intolerance (LPI) is a rare multisystemic metabolic disease. ...The first and last high-resolution computed tomography (HRCT) were also reviewed. RESULTS: Lung involvement was observed in ten of 14 patients …
BACKGROUND AND OBJECTIVES: Lysinuric protein intolerance (LPI) is a rare multisystemic metabolic disease. ...The first …
Abnormal coagulation and enhanced fibrinolysis due to lysinuric protein intolerance associates with bleeds and renal impairment.
Pitkänen HH, Kärki M, Niinikoski H, Tanner L, Näntö-Salonen K, Pikta M, Kopatz WF, Zuurveld M, Meijers JCM, Brinkman HJM, Lassila R. Pitkänen HH, et al. Haemophilia. 2018 Sep;24(5):e312-e321. doi: 10.1111/hae.13543. Epub 2018 Aug 2. Haemophilia. 2018. PMID: 30070418
INTRODUCTION: Lysinuric protein intolerance (LPI), a rare autosomal recessive transport disorder of cationic amino acids lysine, arginine and ornithine, affects intestines, lungs, liver and kidneys. ...METHODS: We enrolled 15 adult patients (8 female) and ass …
INTRODUCTION: Lysinuric protein intolerance (LPI), a rare autosomal recessive transport disorder of cationic amino acid …
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course.
Parenti G, Sebastio G, Strisciuglio P, Incerti B, Pecoraro C, Terracciano L, Andria G. Parenti G, et al. J Pediatr. 1995 Feb;126(2):246-51. doi: 10.1016/s0022-3476(95)70552-x. J Pediatr. 1995. PMID: 7844671 Review.
STUDY OBJECTIVE: To evaluate phenotypic variability of lysinuric protein intolerance in a cohort of nine Italian patients. ...Some peculiar clinical findings observed in Italian patients point to a genetic heterogeneity of lysinuric protein …
STUDY OBJECTIVE: To evaluate phenotypic variability of lysinuric protein intolerance in a cohort of nine Italian patien …
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.
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y(+)LAT1. ...During follow-up, 5 patients presented with acute hy …
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutation …
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. Orphanet J Rare Dis. 2018. PMID: 30285816 Free PMC article.
Deficiencies of arginase, N-acetylglutamate synthase, carbamoyl phosphate synthetase, citrin, and lysinuric protein intolerance were also observed. Molecular genetic analysis revealed two common ASS1 mutations: c.470G > A (p.Arg157His) and c.1168G & …
Deficiencies of arginase, N-acetylglutamate synthase, carbamoyl phosphate synthetase, citrin, and lysinuric protein intoler …
Osteoporosis in lysinuric protein intolerance.
Parto K, Penttinen R, Paronen I, Pelliniemi L, Simell O. Parto K, et al. J Inherit Metab Dis. 1993;16(2):441-50. doi: 10.1007/BF00710296. J Inherit Metab Dis. 1993. PMID: 8412005
Lysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic amino acids. ...Collagen synthesis in LPI fibroblast cultures was significantly decreased compared with that in age-matched controls at 5 (p …
Lysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic …
34 results