SOCIETY FOR THE STUDY
OF INBORN ERRORS OF METABOLISM

×

Warning

JUser: :_load: Unable to load user with ID: 5647
JUser: :_load: Unable to load user with ID: 7835
JUser: :_load: Unable to load user with ID: 5154
JUser: :_load: Unable to load user with ID: 4389
JUser: :_load: Unable to load user with ID: 11805
JUser: :_load: Unable to load user with ID: 6030
JUser: :_load: Unable to load user with ID: 5216
JUser: :_load: Unable to load user with ID: 5391
JUser: :_load: Unable to load user with ID: 4983
JUser: :_load: Unable to load user with ID: 13076
JUser: :_load: Unable to load user with ID: 8156
JUser: :_load: Unable to load user with ID: 6861
JUser: :_load: Unable to load user with ID: 5032
JUser: :_load: Unable to load user with ID: 5451
JUser: :_load: Unable to load user with ID: 13275
JUser: :_load: Unable to load user with ID: 3746
JUser: :_load: Unable to load user with ID: 7127
JUser: :_load: Unable to load user with ID: 3869
JUser: :_load: Unable to load user with ID: 5088
JUser: :_load: Unable to load user with ID: 9278
JUser: :_load: Unable to load user with ID: 6087
JUser: :_load: Unable to load user with ID: 5057
JUser: :_load: Unable to load user with ID: 8855
JUser: :_load: Unable to load user with ID: 5120
JUser: :_load: Unable to load user with ID: 4781

2020

Dr R Spiegel
Afula, Israel

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

Download Publication

Additional Information

J Inherit Metab Dis. 2019; 42(2): 264-275 doi: 10.1002/

Epub 2018 Mar 8; 2018 Jul;41(4):689-698. doi: 10.1007/s10545-018-0157-4

Membership

Membership of the Society is open to all individuals interested in and willing to support the aims of the Society.

 Membership 2026      User Profile

 

SSIEM Administrator

Society for the Study of Inborn
Errors of Metabolism (SSIEM)
PO Box 3375,
South Croydon, CR2 1PN 
United Kingdom

Registered Office: 
The Society for Study of Inborn Errors of Metabolism,
C/O Stone King LLP,
Boundary House,
91 Charterhouse Street,
London, EC1M 6HR,
United Kingdom

Registered Charity No.1010639
Registered Company No.2567711
Website & Contents © SSIEM 2005-2026

Login

JIMD Online

Access for Members
Journal of Inherited Metabolic Disease

About the Journal

Legal Links

SSIEM E-Learning

now released
HYPERAMMONAEMIA
Online learning resource

e-Learning

We use cookies

We use cookies on our website. Some of them are essential for the operation of the site, while others help us to improve this site and the user experience (tracking cookies). You can decide for yourself whether you want to allow cookies or not. Please note that if you reject them, you may not be able to use all the functionalities of the site.