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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2000-2-17
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pubmed:abstractText |
The objectives of this study were to clarify the involvement of the glutamate dehydrogenase gene in congenital hyperinsulinemia-hyperammonemia syndrome (CHHS) and the relationships between the mutation of the gene and clinical severity.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0022-3476
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
136
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
69-72
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10636977-Adenine,
pubmed-meshheading:10636977-Ammonia,
pubmed-meshheading:10636977-Codon,
pubmed-meshheading:10636977-Cytosine,
pubmed-meshheading:10636977-Female,
pubmed-meshheading:10636977-Glutamate Dehydrogenase,
pubmed-meshheading:10636977-Guanine,
pubmed-meshheading:10636977-Heterozygote,
pubmed-meshheading:10636977-Humans,
pubmed-meshheading:10636977-Hyperinsulinism,
pubmed-meshheading:10636977-Hypoglycemia,
pubmed-meshheading:10636977-Infant,
pubmed-meshheading:10636977-Infant, Newborn,
pubmed-meshheading:10636977-Male,
pubmed-meshheading:10636977-Mutation, Missense,
pubmed-meshheading:10636977-Seizures,
pubmed-meshheading:10636977-Syndrome,
pubmed-meshheading:10636977-Thymine,
pubmed-meshheading:10636977-Unconsciousness
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pubmed:year |
2000
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pubmed:articleTitle |
Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.
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pubmed:affiliation |
Department of Pediatrics, Faculty of Medicine, the University of Tokyo, Tokyo, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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