Linked Life Data

11061266

Source:http://linkedlifedata.com/resource/pubmed/id/11061266

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2000-11-3
pubmed:abstractText
A 22-year-old man presented with recurrent ulnar mononeuropathies and diffusely slow nerve conduction velocities. Arylsulfatase A (ASA) activity from leukocytes and fibroblasts was reduced, and urinary sulfatides were increased. Sural nerve biopsy revealed a reduction in myelinated fibers and Schwann cell inclusions. Results of studies of CNS integrity, including cranial MRI, evoked potentials, and neuropsychologic tests, were normal. Molecular genetic analyses revealed a novel homozygous missense mutation (Thr286Pro) in the ASA gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0028-3878
pubmed:author
pubmed:issnType
Print
pubmed:day
10
pubmed:volume
55
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1036-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Adult-onset MLD: a gene mutation with isolated polyneuropathy.
pubmed:affiliation
Department of Neurology, University of Connecticut School of Medicine, Farmington 06035-1840, USA. felice@nso.uchc.edu
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't