Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity-Reference-Cited by-同舟云学术

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Published:2017-02-14 Issue:5 Volume:38 Page:524-531
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Mendes Marisa I¹,Smith Desirée EC¹,Pop Ana¹,Lennertz Pascal¹,Fernandez Ojeda Matilde R¹,Kanhai Warsha A¹,van Dooren Silvy JM¹,Anikster Yair²,Barić Ivo³,Boelen Caroline⁴,Campistol Jaime⁵,de Boer Lonneke⁶,Kariminejad Ariana⁷,Kayserili Hulya⁸,Roubertie Agathe⁹¹⁰,Verbruggen Krijn T¹¹,Vianey-Saban Christine¹²,Williams Monique¹,Salomons Gajja S¹

Affiliation:

1. Department of Clinical Chemistry; Metabolic Unit; VU University Medical Center; Amsterdam Neuroscience; Amsterdam The Netherlands

2. Edmond and Lily Safra Children's Hospital; Sheba Medical Center and Sackler School of Medicine; Tel Aviv University; Israel

3. Department of Pediatrics; University Hospital Center Zagreb & University of Zagreb, School of Medicine; Zagreb Croatia

4. Department of Pediatrics; Admiraal De Ruyter Ziekenhuis; Goes Zeeland The Netherlands

5. Neurology Department; CIBERER ISCIII; Hospital Sant Joan de Deu; University of Barcelona; Barcelona Spain

6. Department of pediatrics, metabolic diseases; Radboud University Medical Center; Nijmegen The Netherlands

7. Kariminejad-Najmabadi Pathology & Genetics Center; Tehran Iran

8. Medical Genetics Department; Koç University School of Medicine (KUSOM); Istanbul Turkey

9. Département de Neuropédiatrie; Hopital Gui de Chauliac; Montpellier Languedoc-Roussillon France

10. INSERM U1051; Institut des Neurosciences de Montpellier; Montpellier France

11. Beatrix Children's Hospital, University Medical Center Groningen; University of Groningen; Groningen The Netherlands

12. Centre de Biologie et de Pathologie Est CHU de Lyon; Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal; Lyon France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23181/fullpdf

Reference41 articles.

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2. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants;Betsalel;Mol Genet Metab,2012

3. Structure of aspartoacylase, the brain enzyme impaired in Canavan disease;Bitto;Proc Natl Acad Sci USA,2007

4. Schilder's encephalitis perioxalisdiffusa;Canavan;Neurol,1931

5. An atypical case of Canavan disease with stroke-like presentation;Delaney;Pediatr Neurol,2015

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