11468311

Source:http://linkedlifedata.com/resource/pubmed/id/11468311

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0008633, umls-concept:C0023520, umls-concept:C0205082, umls-concept:C0205419, umls-concept:C0231330, umls-concept:C1302234, umls-concept:C1521326, umls-concept:C2931489
pubmed:issue	2
pubmed:dateCreated	2001-7-24
pubmed:abstractText	To describe clinical and neuropathologic studies and linkage analysis on two sisters with a severe form of leukodystrophy.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	0028-3878
pubmed:author	pubmed-author:BertiniEE, pubmed-author:Boespflug-TanguyOO, pubmed-author:BoldriniRR, pubmed-author:BosmanCC, pubmed-author:Dionisi-ViciCC, pubmed-author:Eymard-PierreEE, pubmed-author:FarielloGG, pubmed-author:FrancalanciPP, pubmed-author:PiemonteFF, pubmed-author:SantorelliF MFM, pubmed-author:VirgiliRR
pubmed:issnType	Print
pubmed:day	24
pubmed:volume	57
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	265-70
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:11468311-Alleles, pubmed-meshheading:11468311-Brain, pubmed-meshheading:11468311-Chromosomes, Human, Pair 3, pubmed-meshheading:11468311-Demyelinating Diseases, pubmed-meshheading:11468311-Fatal Outcome, pubmed-meshheading:11468311-Female, pubmed-meshheading:11468311-Humans, pubmed-meshheading:11468311-Infant, pubmed-meshheading:11468311-Magnetic Resonance Imaging, pubmed-meshheading:11468311-Microscopy, Electron, pubmed-meshheading:11468311-Pedigree, pubmed-meshheading:11468311-Syndrome
pubmed:year	2001
pubmed:articleTitle	Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.
pubmed:affiliation	Division of Pathology, Bambino Gesu' Research Hospital, IRCCS, Rome, Italy.
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't