12789572

Source:http://linkedlifedata.com/resource/pubmed/id/12789572

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0282577, umls-concept:C0332307, umls-concept:C1280464, umls-concept:C1522230
pubmed:issue	2
pubmed:dateCreated	2003-6-5
pubmed:abstractText	To present the ophthalmic manifestations of patients with congenital disorder of glycosylation type Ia (CDG-Ia) due to the frequent R141H/F119L PMM2 genotype.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9436057
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Acyl Carrier Protein, http://linkedlifedata.com/resource/pubmed/chemical/Phosphotransferases (Phosphomutases), http://linkedlifedata.com/resource/pubmed/chemical/phosphomannomutase
pubmed:status	MEDLINE
pubmed:month	Jun
pubmed:issn	1381-6810
pubmed:author	pubmed-author:JensenHanneH, pubmed-author:KjaergaardSusanneS, pubmed-author:KlieFlemmingF, pubmed-author:MollerH UHU
pubmed:issnType	Print
pubmed:volume	24
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	81-8
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:12789572-Acyl Carrier Protein, pubmed-meshheading:12789572-Adolescent, pubmed-meshheading:12789572-Adult, pubmed-meshheading:12789572-Child, pubmed-meshheading:12789572-Child, Preschool, pubmed-meshheading:12789572-Congenital Disorders of Glycosylation, pubmed-meshheading:12789572-Electroretinography, pubmed-meshheading:12789572-Failure to Thrive, pubmed-meshheading:12789572-Female, pubmed-meshheading:12789572-Fundus Oculi, pubmed-meshheading:12789572-Genotype, pubmed-meshheading:12789572-Glycosylation, pubmed-meshheading:12789572-Humans, pubmed-meshheading:12789572-Infant, pubmed-meshheading:12789572-Male, pubmed-meshheading:12789572-Myopia, pubmed-meshheading:12789572-Phenotype, pubmed-meshheading:12789572-Phosphotransferases (Phosphomutases), pubmed-meshheading:12789572-Prognosis, pubmed-meshheading:12789572-Retinal Diseases, pubmed-meshheading:12789572-Strabismus, pubmed-meshheading:12789572-Visual Acuity
pubmed:year	2003
pubmed:articleTitle	Ophthalmic manifestations of congenital disorder of glycosylation type 1a.
pubmed:affiliation	Department of Pediatric Ophthalmology and Handicap, Copenhagen County Hospital, Glostrup, Denmark. hanne.jensen@visaid.dk
pubmed:publicationType	Journal Article