|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0004083,
umls-concept:C0008667,
umls-concept:C0011155,
umls-concept:C0023884,
umls-concept:C0205197,
umls-concept:C0242417,
umls-concept:C0268484,
umls-concept:C0426857,
umls-concept:C0441655,
umls-concept:C0449721,
umls-concept:C0681850,
umls-concept:C1442161,
umls-concept:C1550501,
umls-concept:C1706203,
umls-concept:C2349001,
umls-concept:C2697811
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1982-4-12
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|
pubmed:abstractText |
The authors report the association in a child of monosomy 4p- and tyrosinosis. They discuss the localization of the para-hydroxyphenylpyruvate oxidase locus on the short arm of chromosome 4. They suggest the study of para-hydroxyphenylpyruvate oxidase activity in each child with monosomy 4p-.
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|
pubmed:language |
fre
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Dec
|
|
pubmed:issn |
0021-7743
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
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pubmed:volume |
29
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
455-61
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|
pubmed:dateRevised |
2006-11-15
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|
pubmed:meshHeading |
pubmed-meshheading:7328420-4-Hydroxyphenylpyruvate Dioxygenase,
pubmed-meshheading:7328420-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:7328420-Chromosome Deletion,
pubmed-meshheading:7328420-Chromosomes, Human, 4-5,
pubmed-meshheading:7328420-Female,
pubmed-meshheading:7328420-Humans,
pubmed-meshheading:7328420-Infant, Newborn,
pubmed-meshheading:7328420-Male,
pubmed-meshheading:7328420-Middle Aged,
pubmed-meshheading:7328420-Oxygenases,
pubmed-meshheading:7328420-Pedigree,
pubmed-meshheading:7328420-Tyrosine
|
|
pubmed:year |
1981
|
|
pubmed:articleTitle |
[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].
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|
pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|
