Literature DB >> 16091374

Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?

Manuel Schiff1, Irène Maire, Yves Bertrand, Pierre Cochat, Nathalie Guffon.   

Abstract

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Mesh：

Year:  2005        PMID： 16091374     DOI： 10.1093/ndt/gfi063

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


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  7 in total

Review 1.  Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Authors:  A Caciotti; M Di Rocco; M Filocamo; S Grossi; F Traverso; A d'Azzo; C Cavicchi; A Messeri; R Guerrini; E Zammarchi; M A Donati; Amelia Morrone
Journal:  J Neurol       Date:  2009-07-01       Impact factor: 4.849

2.  Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.

Authors:  Laurent Bonesso; Monique Piraud; Céline Caruba; Emmanuel Van Obberghen; Raymond Mengual; Charlotte Hinault
Journal:  Orphanet J Rare Dis       Date:  2014-02-06       Impact factor: 4.123

3.  Hematopoietic cell transplantation for sialidosis type I.

Authors:  Ashish O Gupta; Marc C Patterson; Tim Wood; Julie B Eisengart; Paul J Orchard; Troy C Lund
Journal:  Mol Genet Metab Rep       Date:  2021-12-08

Review 4.  The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.

Authors:  Brianna M Naumchik; Ashish Gupta; Heather Flanagan-Steet; Richard A Steet; Sara S Cathey; Paul J Orchard; Troy C Lund
Journal:  Cells       Date:  2020-06-05       Impact factor: 6.600

5.  Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.

Authors:  Reza Maroofian; Isabel Schuele; Maryam Najafi; Zeineb Bakey; Abolfazl Rad; Dinu Antony; Haleh Habibi; Miriam Schmidts
Journal:  Kidney Int Rep       Date:  2018-07-29

Review 6.  Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.

Authors:  Aiza Khan; Consolato Sergi
Journal:  Diagnostics (Basel)       Date:  2018-04-25

Review 7.  Mucolipidoses Overview: Past, Present, and Future.

Authors:  Shaukat A Khan; Saori C Tomatsu
Journal:  Int J Mol Sci       Date:  2020-09-17       Impact factor: 5.923
  7 in total

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