Journal article icon

Journal article

Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant.

Abstract:

The congenital disorders of glycosylation (CDG) are autosomal recessive disorders of N-glycans processing. Several different subtypes have been identified in recent years. Cerebellar atrophy is a characteristic finding in subtype Ia. We report clinical, imaging and genetic findings in a patient with a particularly benign clinical course, who had a normal CT at the age of 9 months and a new, previously undescribed, combination of mutations of the PMM gene locus on chromosome 16p13 (647,691). T...

Expand abstract

Actions


Access Document


Publisher copy:
10.1007/s003810100493

Authors


Döbler-Neumann, M More by this author
Stibler, H More by this author
Krägeloh-Mann, I More by this author
Journal:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Volume:
18
Issue:
1-2
Pages:
77-80
Publication date:
2002-02-05
DOI:
EISSN:
1433-0350
ISSN:
0256-7040
URN:
uuid:fb220d2b-c168-4efd-9666-9115e5872f74
Source identifiers:
241271
Local pid:
pubs:241271

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP