Linked Life Data

17712733

Source:http://linkedlifedata.com/resource/pubmed/id/17712733

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-8-22
pubmed:abstractText
We present four children, three of them boys, affected with an identical clinical pattern consisting of early-onset ataxia, delayed dentition, hypomyelination and cerebellar atrophy. Dental radiographs showed variable absence of succedaneous teeth. Proton MR spectroscopy in one child showed elevated white matter myo-inositol. As the clinical and radiological picture in these patients is identical to that of four cases described earlier, we suggest that this disorder with ataxia, delayed dentition and hypomyelination (ADDH) represents a new entity. With the characteristic tooth abnormalities it should be straightforward to identify new patients in order to facilitate the search for the underlying genetic defect.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
64-70
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy.
pubmed:affiliation
Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany. nicole.wolf@med.uni-heidelberg.de
pubmed:publicationType
Journal Article, Case Reports