CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
1 research outputs found
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
Author
Ali Reza Tavasoli
GHB Maegawa
+22Â more
H Dastsooz
HA Ozkara
HF Lee
IT Villamizar-Schiller
Johannes Zschocke
LA Barness
M Gomez-Lira
Mahmoud Reza Ashrafi
MR Ashrafi
MR Ashrafi
Nima Parvaneh
NJ Smith
O Staretz-Chacham
P Gaignard
P Karimzadeh
Parastoo Rostami
S Lakshmi
S Zampieri
S Zampieri
T Autti
U Landegren
Zahra Rezaei
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref