Linked Life Data

19128417

Source:http://linkedlifedata.com/resource/pubmed/id/19128417

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2009-6-5
pubmed:abstractText
Pyridoxine-dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin gene (ALDH7A1) are now recognized as the molecular basis of cases of neonatal-onset PDS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1528-1167
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1167-75
pubmed:meshHeading
pubmed-meshheading:19128417-Adolescent, pubmed-meshheading:19128417-Adult, pubmed-meshheading:19128417-Age of Onset, pubmed-meshheading:19128417-Aldehyde Dehydrogenase, pubmed-meshheading:19128417-Child, pubmed-meshheading:19128417-Child, Preschool, pubmed-meshheading:19128417-Cohort Studies, pubmed-meshheading:19128417-DNA Mutational Analysis, pubmed-meshheading:19128417-Female, pubmed-meshheading:19128417-History, Ancient, pubmed-meshheading:19128417-Humans, pubmed-meshheading:19128417-Male, pubmed-meshheading:19128417-Mutation, pubmed-meshheading:19128417-North America, pubmed-meshheading:19128417-Pipecolic Acids, pubmed-meshheading:19128417-Prevalence, pubmed-meshheading:19128417-Pyridoxine, pubmed-meshheading:19128417-Seizures, pubmed-meshheading:19128417-Sequence Analysis, Protein, pubmed-meshheading:19128417-Vitamin B Complex
pubmed:year
2009
pubmed:articleTitle
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
pubmed:affiliation
Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, and Children's Hospital and Regional Medical Center, Seattle, Washington 98195-6320, USA. cbenet@u.washington.edu
pubmed:publicationType
Journal Article, Historical Article, Research Support, Non-U.S. Gov't