Page last updated: 2024-08-17

lysine and Amino Acid Transport Disorders, Inborn

lysine has been researched along with Amino Acid Transport Disorders, Inborn in 9 studies

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's9 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Espino, M; Font-Llitjós, M; Gómez, L; Mañas, S; Nunes, V; Palacín, M; Pérez-Jurado, LA; Rodríguez-Santiago, B; Sillué, R1
Elpeleg, O; Gutman, A; Korman, SH; Raas-Rothschild, A1
Bertran, J; Chillarón, J; Estévez, R; Palacín, M; Zorzano, A1
Dave, MH; Schulz, N; Verrey, F; Wagner, CA; Zecevic, M1
Andria, G; Brancaccio, G; D'argenio, P; Dionisi-Vici, C; Francalanci, P; Parenti, G; Parisi, F; Santamaria, F; Sebastio, G; Squitieri, C1
Ammendola, V; Andria, G; Annunziata, P; Fiorito, V; Pepe, A; Sebastio, G; Soldovieri, MV; Sperandeo, MP; Taglialatela, M1
Adami, A; Baritussio, A; Bolongaro, A; Ceruti, M; Luisetti, M; Pozzi, E; Rodi, G; Stella, GM1
Helanterä, A; Huoponen, K; Jahnukainen, T; Kananen, K; Keskinen, P; Linnanvuo, M; Metso, M; Näntö-Salonen, K; Niinikoski, H; Saha, H; Simell, O; Tanner, LM1
Bertran, J; Palacín, M; Zorzano, A1

Reviews

2 review(s) available for lysine and Amino Acid Transport Disorders, Inborn

ArticleYear
Lysinuric protein intolerance: mechanisms of pathophysiology.
    Molecular genetics and metabolism, 2004, Volume: 81 Suppl 1

    Topics: Amino Acid Transport Disorders, Inborn; Amino Acid Transport System y+L; Amino Acid Transport Systems; Animals; Cystinuria; Fusion Regulatory Protein 1, Light Chains; Humans; Intestinal Mucosa; Kidney; Lysine; Mice; Models, Molecular; Molecular Structure; Mutation; Phenotype; Urea

2004
Heteromeric amino acid transporters explain inherited aminoacidurias.
    Current opinion in nephrology and hypertension, 2000, Volume: 9, Issue:5

    Topics: Amino Acid Transport Disorders, Inborn; Amino Acids; Cystinuria; Humans; Kidney Diseases; Lysine

2000

Other Studies

7 other study(ies) available for lysine and Amino Acid Transport Disorders, Inborn

ArticleYear
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
    European journal of human genetics : EJHG, 2009, Volume: 17, Issue:1

    Topics: Adolescent; Alu Elements; Amino Acid Sequence; Amino Acid Transport Disorders, Inborn; Amino Acid Transport System y+L; Child; Child, Preschool; DNA Mutational Analysis; Female; Fusion Regulatory Protein 1, Light Chains; Gene Rearrangement; Humans; Introns; Lysine; Male; Point Mutation

2009
Hypocarnitinemia in lysinuric protein intolerance.
    Molecular genetics and metabolism, 2002, Volume: 76, Issue:1

    Topics: Amino Acid Transport Disorders, Inborn; Carnitine; Child; Female; Humans; Infant; Lysine; Male

2002
Expression of heteromeric amino acid transporters along the murine intestine.
    The Journal of physiology, 2004, Jul-15, Volume: 558, Issue:Pt 2

    Topics: Amino Acid Transport Disorders, Inborn; Amino Acid Transport Systems; Animals; Blotting, Western; Cystinuria; Dimerization; Immunohistochemistry; Intestinal Mucosa; Lysine; Male; Mice; Mice, Inbred Strains; Polymerase Chain Reaction; RNA, Messenger

2004
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.
    The Journal of pediatrics, 2004, Volume: 145, Issue:2

    Topics: Amino Acid Transport Disorders, Inborn; Fatal Outcome; Heart-Lung Transplantation; Humans; Infant; Lysine; Male; Pulmonary Alveolar Proteinosis; Recurrence

2004
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
    Human mutation, 2005, Volume: 25, Issue:4

    Topics: Alleles; Amino Acid Transport Disorders, Inborn; Amino Acid Transport System y+L; Animals; Cell Membrane; Dimerization; DNA Mutational Analysis; Dogs; Epithelial Cells; Exons; Female; Fusion Regulatory Protein 1, Light Chains; Humans; Kidney Tubules; Lysine; Male; Mutation; Oocytes; Protein Structure, Tertiary; Xenopus laevis

2005
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report.
    Orphanet journal of rare diseases, 2007, Mar-26, Volume: 2

    Topics: Adolescent; Amino Acid Transport Disorders, Inborn; Bronchoalveolar Lavage; Child; Follow-Up Studies; Humans; Lysine; Male; Pulmonary Alveolar Proteinosis; Treatment Outcome

2007
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance.
    The Journal of pediatrics, 2007, Volume: 150, Issue:6

    Topics: Adolescent; Adult; Amino Acid Transport Disorders, Inborn; Child; Child, Preschool; Citrulline; Creatinine; Cystatin C; Cystatins; Disease Progression; Female; Glomerular Filtration Rate; Humans; Infant; Kidney Diseases; Kidney Failure, Chronic; Kidney Transplantation; Lysine; Male; Middle Aged; Proteinuria

2007