Literature DB >> 16868861

Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance.

L Gömez1, A García-Cazorla, A Gutiérrez, R Artuch, V Varea, J Martín, S Pinillos, M A Vilaseca.   

Abstract

Lysinuric protein intolerance is an inborn error of cationic amino acid transport of which osteoporosis is a major feature. Treatment with oral bisphosphonates improves bone mineral density even in severe osteoporosis.

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Year:  2006        PMID： 16868861     DOI： 10.1007/s10545-006-0236-9

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


  6 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.  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

3.  Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Authors:  Mariona Font-Llitjós; Benjamín Rodríguez-Santiago; Meritxell Espino; Ruth Sillué; Sandra Mañas; Laia Gómez; Luis A Pérez-Jurado; Manuel Palacín; Virginia Nunes
Journal:  Eur J Hum Genet       Date:  2008-08-20       Impact factor: 4.246

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

Review 6.  Bone health in patients with inborn errors of metabolism.

Authors:  M Langeveld; C E M Hollak
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514
  6 in total

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