Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis-Reference-Cited by-同舟云学术

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Published:2016-09 Issue:1-2 Volume:119 Page:160-167
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Fietz Michael,AlSayed Moeenaldeen,Burke Derek,Cohen-Pfeffer Jessica,Cooper Jonathan D.,Dvořáková Lenka,Giugliani Roberto,Izzo Emanuela,Jahnová Helena,Lukacs Zoltan,Mole Sara E.,Noher de Halac Ines,Pearce David A.,Poupetova Helena,Schulz Angela,Specchio Nicola,Xin Winnie,Miller Nicole

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference52 articles.

1. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis;Sleat;Science,1997

2. Towards a new understanding of NCL pathogenesis;Cooper;Biochim. Biophys. Acta,2015

3. The Neuronal Ceroid Lipofuscinoses (Batten Disease);Mole,2011

4. Screening, diagnosis and epidemiology of Batten disease;Simpson,2014

5. CLN2 Disease: Natural History, Challenges in Clinical Recognition and Path to Diagnosis, in preparation;Schulz,2016

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