Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency

article by Toshiki Takenouchi et al published October 2014 in American Journal of Medical Genetics

Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.36671
P698PubMed publication ID25123069

P50authorReiko HorikawaQ91181965
P2093author name stringKenjiro Kosaki
Rika Kosaki
Toshiki Takenouchi
Yuki Tsukahara
P2860cites workAlternative pathway therapy for urea cycle disorders: twenty years laterQ28142167
Ancestry and pathology in King Tutankhamun's familyQ34021276
Inborn errors of metabolism in infancy: a guide to diagnosisQ34755318
Isolation of human genomic DNA for genetic analysis from premature neonates: a comparison between newborn dried blood spots, whole blood and umbilical cord tissueQ35028072
Ornithine transcarbamylase deficiency: a urea cycle defectQ35145967
The umbilical cord: transcultural care and customsQ47589367
Retrospective diagnosis of congenital cytomegalovirus infection at a school for the deaf by using preserved dried umbilical cordQ50441986
Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy.Q52206544
Prenatal diagnosis of werdnig-hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markersQ57304774
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectornithine carbamoyltransferase deficiencyQ3043161
P304page(s)2679-81
P577publication date2014-10-01
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleFour-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency
P478volume164A

Reverse relations

Q87053731Ornithine transcarbamylase deficiency of a male newborn with fatal outcomecites workP2860

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