The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders-Reference-Cited by-同舟云学术

The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders

Published:2019-02-05 Issue:6 Volume:32 Page:755-763
ISSN:0893-3952
Container-title:Modern Pathology
language:en
Short-container-title:Mod Pathol

Author:

Zlamy Manuela,Hofstätter Justina,Albrecht Ursula,Baumgartner Sara,Haberlandt Edda,Scholl-Bürgi Sabine,Guntersweiler Doris,Reinehr Michael,Mihic-Probst Daniela,Karall Daniela

Publisher

Springer Science and Business Media LLC

Subject

Pathology and Forensic Medicine

Link

http://www.nature.com/articles/s41379-019-0201-4.pdf

Reference13 articles.

1. Seregin SS, Amalfitano A. Gene therapy for lysosomal storage diseases: progress, challenges and future prospects. Curr Pharm Des. 2011;17:2558–74.

2. Alroy J, Ucci AA. Skin biopsy: a useful tool in the diagnosis of lysosomal storage diseases. Ultrastruct Pathol. 2006;30:489–503.

3. Prasad A, Kaye EM, Alroy J. Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage diseases. J Child Neurol. 1996;11:301–8.

4. Neufeld EF. Lysosomal storage diseases. Annu Rev Biochem. 1991;60:257–80.

5. Boustany RN, Kaye E, Alroy J. Ultrastructural findings in skin from patients with Niemann–Pick disease, type C. Pediatr Neurol. 1990;6:177–83.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Auf der Suche nach der Nadel im Heuhaufen;Pädiatrie & Pädologie;2021-11-30

2. Auf der Suche nach der Nadel im Heuhaufen;Pädiatrie;2021-09

3. Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures;PLOS Genetics;2021-06-18

4. Loss of a subunit of vacuolar ATPase identifies unexpected biological signatures of reduced organelle acidification in vivo;2020-11-30