15851735

Source:http://linkedlifedata.com/resource/pubmed/id/15851735

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0547040, umls-concept:C0598429, umls-concept:C0678226, umls-concept:C0751748, umls-concept:C1412390, umls-concept:C1415099
pubmed:issue	8
pubmed:dateCreated	2005-4-26
pubmed:abstractText	Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening. Milder, later onset variants have been reported but were usually sporadic and incompletely defined.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Glycine, http://linkedlifedata.com/resource/pubmed/chemical/Glycine Dehydrogenase..., http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	1526-632X
pubmed:author	pubmed-author:FlusserHH, pubmed-author:GalilAA, pubmed-author:KormanS HSH, pubmed-author:KureSS, pubmed-author:MatsubaraYY, pubmed-author:SatoKK
pubmed:issnType	Electronic
pubmed:day	26
pubmed:volume	64
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1426-30
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:15851735-Adolescent, pubmed-meshheading:15851735-Alternative Splicing, pubmed-meshheading:15851735-Arabs, pubmed-meshheading:15851735-Brain, pubmed-meshheading:15851735-Brain Chemistry, pubmed-meshheading:15851735-Child, pubmed-meshheading:15851735-Child, Preschool, pubmed-meshheading:15851735-DNA Mutational Analysis, pubmed-meshheading:15851735-Disease Progression, pubmed-meshheading:15851735-Exons, pubmed-meshheading:15851735-Female, pubmed-meshheading:15851735-Genetic Testing, pubmed-meshheading:15851735-Glycine, pubmed-meshheading:15851735-Glycine Dehydrogenase (Decarboxylating), pubmed-meshheading:15851735-Homozygote, pubmed-meshheading:15851735-Humans, pubmed-meshheading:15851735-Hyperglycinemia, Nonketotic, pubmed-meshheading:15851735-Infant, pubmed-meshheading:15851735-Male, pubmed-meshheading:15851735-Mutation, pubmed-meshheading:15851735-Pedigree, pubmed-meshheading:15851735-Phenotype, pubmed-meshheading:15851735-RNA, Messenger
pubmed:year	2005
pubmed:articleTitle	Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
pubmed:affiliation	Zusman Child Development Center, Pediatric Division, Soroka University Medical Center and Ben-Gurion University of the Negev, Beer Sheva, Israel.
pubmed:publicationType	Journal Article, Case Reports