Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis

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

doi:10.1016/j.ymgme.2015.12.301

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Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis

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Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis

Roberto Giugliani, Michael Fietz, Moeenaldeen Al-Sayed, Derek Burke, Jessica Cohen-Pfeffer, Jonathan D. Cooper, Ines Noher de Halac, Lenka Dvořáková, Emanuela Izzo, Helena Jahnová, …

Molecular genetics and metabolism, Vol.117(2), pp.S61-S61

02/2016

DOI: https://doi.org/10.1016/j.ymgme.2015.12.301

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Title: Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis
Creators - without role: Roberto Giugliani - National Institute on Population Medical Genetics
Michael Fietz - Genomics
Moeenaldeen Al-Sayed - Alfaisal University
Derek Burke - Great Ormond Street Hospital
Jessica Cohen-Pfeffer - BioMarin
Jonathan D. Cooper - King's College London
Ines Noher de Halac - Universidad Nacional de Córdoba
Lenka Dvořáková - General University Hospital in Prague
Emanuela Izzo - BioMarin
Helena Jahnová - Charles University
Zoltan Lukacs - Newborn screening and Metabolic Diagnostics unit, Hamburg University Medical Center, Hamburg, Germany
Sara Mole - MRC Laboratory for Molecular Cell Biology
David Pearce - Sanford Research
Angela Schulz - University Medical Center Hamburg-Eppendorf
Nicola Specchio - Bambino Gesù Children's Hospital
Winnie Xin - Massachusetts General Hospital
Nicole Miller - BioMarin
Publication Details: Molecular genetics and metabolism, Vol.117(2), pp.S61-S61
Publisher: Elsevier Inc
Identifiers: 9913635008331
Academic Unit: King Faisal University; Alfaisal University
Language: English
Resource Type: Journal article