Literature DB >> 11548196

Lysinuric protein intolerance in siblings: complication of systemic lupus erythematosus in the elder sister.

M Aoki, T Fukao, Y Fujita, M Watanabe, T Teramoto, Y Kato, Y Suzuki, N Kondo.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11548196     DOI： 10.1007/pl00008455

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


× No keyword cloud information.
  10 in total

1.  A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.

Authors:  Bridget M Stroup; Ronit Marom; Xiaohui Li; Chih-Wei Hsu; Cheng-Yen Chang; Luan D Truong; Brian Dawson; Ingo Grafe; Yuqing Chen; Ming-Ming Jiang; Denise Lanza; Jennie Rose Green; Qin Sun; J P Barrish; Safa Ani; Audrey E Christiansen; John R Seavitt; Mary E Dickinson; Farrah Kheradmand; Jason D Heaney; Brendan Lee; Lindsay C Burrage
Journal:  Hum Mol Genet       Date:  2020-08-03       Impact factor: 6.150

Review 2.  Monogenic Lupus.

Authors:  Mindy S Lo
Journal:  Curr Rheumatol Rep       Date:  2016-12       Impact factor: 4.592

Review 3.  Overview of symptoms and treatment for lysinuric protein intolerance.

Authors:  Atsuko Noguchi; Tsutomu Takahashi
Journal:  J Hum Genet       Date:  2019-06-18       Impact factor: 3.172

4.  A surprising cause of proteinuria: Answers.

Authors:  Belde Kasap Demir; Ali Kanık; Melis Köse; Burcu Öztürk Hişmi; Maşallah Baran
Journal:  Pediatr Nephrol       Date:  2022-01-09       Impact factor: 3.714

Review 5.  Monogenic systemic lupus erythematosus: insights in pathophysiology.

Authors:  Ezgi Deniz Batu
Journal:  Rheumatol Int       Date:  2018-05-15       Impact factor: 2.631

6.  Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.

Authors:  C Nicolas; N Bednarek; V Vuiblet; O Boyer; A Brassier; P De Lonlay; L Galmiche; P Krug; V Baudouin; S Pichard; M Schiff; C Pietrement
Journal:  JIMD Rep       Date:  2015-11-26

7.  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

8.  Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Authors:  Irit Tirosh; Shiri Spielman; Ortal Barel; Reut Ram; Tali Stauber; Gideon Paret; Marina Rubinsthein; Itai M Pessach; Maya Gerstein; Yair Anikster; Rachel Shukrun; Adi Dagan; Katerina Adler; Ben Pode-Shakked; Alexander Volkov; Marina Perelman; Shoshana Greenberger; Raz Somech; Einat Lahav; Amar J Majmundar; Shai Padeh; Friedhelm Hildebrandt; Asaf Vivante
Journal:  Pediatr Rheumatol Online J       Date:  2019-07-30       Impact factor: 3.054

Review 9.  Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans.

Authors:  Isaac T W Harley; Kristen Allison; R Hal Scofield
Journal:  Front Immunol       Date:  2022-08-24       Impact factor: 8.786

10.  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
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.