Literature DB >> 12175786

Hypocarnitinemia in lysinuric protein intolerance.

Stanley H Korman1, Annick Raas-Rothschild, Orly Elpeleg, Alisa Gutman.   

Abstract

Carnitine deficiency in lysinuric protein intolerance (LPI) has been reported only in a single case. We describe hypocarnitinemia in a 11 year-old male patient with LPI and relate its development to intake, biosynthesis, and uptake of carnitine.

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Year:  2002        PMID： 12175786     DOI： 10.1016/s1096-7192(02)00019-7

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  1 in total

1.  Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Authors:  Josefina Longeri Contreras; Mabel A Ladino; Katherine Aránguiz; Gonzalo P Mendez; Zeynep Coban-Akdemir; Bo Yuan; Richard A Gibbs; Lindsay C Burrage; James R Lupski; Ivan K Chinn; Tiphanie P Vogel; Jordan S Orange; M Cecilia Poli
Journal:  Front Pediatr       Date:  2021-05-20       Impact factor: 3.418
  1 in total

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