Literature DB >> 1779632

A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency.

R Parini1, M Vegni, M Pontiggia, D Melotti, C Corbetta, A Rossi, L Piceni Sereni.   

Abstract

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Year:  1991        PMID： 1779632     DOI： 10.1007/bf01799959

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  1 in total

1.  Lysinuric protein intolerance.

Authors:  O Simell; J Perheentupa; J Rapola; J K Visakorpi; L E Eskelin
Journal:  Am J Med       Date:  1975-08       Impact factor: 4.965
  1 in total
  5 in total

1.  Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Authors:  M P Sperandeo; M T Bassi; M Riboni; G Parenti; A Buoninconti; M Manzoni; B Incerti; M R Larocca; M Di Rocco; P Strisciuglio; I Dianzani; R Parini; M Candito; F Endo; A Ballabio; G Andria; G Sebastio; G Borsani
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.

Authors:  Amelia Barilli; Bianca Maria Rotoli; Rossana Visigalli; Ovidio Bussolati; Gian C Gazzola; Zamir Kadija; Giuseppe Rodi; Francesca Mariani; Maria Lorena Ruzza; Maurizio Luisetti; Valeria Dall'Asta
Journal:  Orphanet J Rare Dis       Date:  2010-11-26       Impact factor: 4.123

3.  Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report.

Authors:  Michele Ceruti; Giuseppe Rodi; Giulia M Stella; Andrea Adami; Antonia Bolongaro; Aldo Baritussio; Ernesto Pozzi; Maurizio Luisetti
Journal:  Orphanet J Rare Dis       Date:  2007-03-26       Impact factor: 4.123

4.  Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Authors:  Jennifer E Posey; Lindsay C Burrage; Marcus J Miller; Pengfei Liu; Matthew T Hardison; Sarah H Elsea; Qin Sun; Yaping Yang; Alecia S Willis; Alan E Schlesinger; Carlos A Bacino; Brendan H Lee
Journal:  Mol Genet Metab Rep       Date:  2014

5.  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
  5 in total

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