18203160

Source:http://linkedlifedata.com/resource/pubmed/id/18203160

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0021270, umls-concept:C0205164, umls-concept:C0205225, umls-concept:C0282577, umls-concept:C0332307, umls-concept:C0410528, umls-concept:C2348519
pubmed:issue	3
pubmed:dateCreated	2008-1-31
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/101235741
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Phosphotransferases (Phosphomutases), http://linkedlifedata.com/resource/pubmed/chemical/phosphomannomutase 2, human
pubmed:status	MEDLINE
pubmed:month	Feb
pubmed:issn	1552-4833
pubmed:author	pubmed-author:BostockDD, pubmed-author:ComanDD, pubmed-author:FietzMM, pubmed-author:HunterMM, pubmed-author:IrvingMM, pubmed-author:JaekenJJ, pubmed-author:KannuPP, pubmed-author:MayneVV, pubmed-author:SavarirayanRR
pubmed:issnType	Electronic
pubmed:day	1
pubmed:volume	146
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	389-92
pubmed:meshHeading	pubmed-meshheading:18203160-Amino Acid Substitution, pubmed-meshheading:18203160-Bone Diseases, Developmental, pubmed-meshheading:18203160-Glycosylation, pubmed-meshheading:18203160-Humans, pubmed-meshheading:18203160-Infant, Newborn, pubmed-meshheading:18203160-Metabolism, Inborn Errors, pubmed-meshheading:18203160-Phosphotransferases (Phosphomutases)
pubmed:year	2008
pubmed:articleTitle	Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia.
pubmed:affiliation	Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia. david.coman@ghsv.org.au
pubmed:publicationType	Journal Article, Case Reports