Literature DB >> 6104037

Basolateral-membrane transport defect for lysine in lysinuric protein intolerance.

J Rajantie, O Simell, J Perheentupa.   

Abstract

In lysinuric protein intolerance intestinal, hepatic, and renal diaminoacid transport is defective, causing malnutrition. In patients fed with lysylglycine plasma glycine increased normally, but lysine increased as poorly as with free lysine. This is the first demonstration of defective peptide absorption. The primary defect is suggested to be at the basolateral cell membrane.

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Year:  1980        PMID： 6104037     DOI： 10.1016/s0140-6736(80)91679-7

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  18 in total

1.  B and T cell immunity in patients with lysinuric protein intolerance.

Authors:  M Lukkarinen; K Parto; O Ruuskanen; O Vainio; H Käyhty; R M Olander; O Simell
Journal:  Clin Exp Immunol       Date:  1999-06       Impact factor: 4.330

2.  Nutrient intake in lysinuric protein intolerance.

Authors:  L M Tanner; K Näntö-Salonen; J Venetoklis; S Kotilainen; H Niinikoski; K Huoponen; O Simell
Journal:  J Inherit Metab Dis       Date:  2007-06-21       Impact factor: 4.982

3.  Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance.

Authors:  H Parsons; F Snyder; T Bowen; J Klassen; A Pinto
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Sudden infant death and lysinuric protein intolerance.

Authors:  J B de Klerk; M Duran; J G Huijmans; G M Mancini
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183

5.  Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

Authors:  T Lauteala; P Sistonen; M L Savontaus; J Mykkänen; J Simell; M Lukkarinen; O Simell; P Aula
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

6.  Lysinuric protein intolerance presenting as coma in a middle-aged man.

Authors:  M Gare; M Shalit; A Gutman
Journal:  West J Med       Date:  1996-10

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

Authors:  Harri Niinikoski; Risto Lapatto; Matti Nuutinen; Laura Tanner; Olli Simell; Kirsti Näntö-Salonen
Journal:  JIMD Rep       Date:  2011-06-22

8.  Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes.

Authors:  D W Smith; C R Scriver; O Simell
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

9.  Growth hormone studies in lysinuric protein intolerance.

Authors:  I Goto; T Yoshimura; Y Kuroiwa
Journal:  Eur J Pediatr       Date:  1984-02       Impact factor: 3.183

10.  Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts.

Authors:  D W Smith; C R Scriver; H S Tenenhouse; O Simell
Journal:  Proc Natl Acad Sci U S A       Date:  1987-11       Impact factor: 11.205
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