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Details on Person Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

Class:IdLiteratureReference:5659981
_displayNameTransaldolase deficiency: report of 12 new cases and further delineation of the phenotype
_timestamp2015-01-02 21:55:06
author[Person:4720487] Eyaid, Wafaa
[Person:5660003] Al Harbi, Talal
[Person:5660001] Anazi, Shamsa
[Person:469690] Wamelink, Mirjam M C
[Person:70816] Jakobs, Cornelis
[Person:5660005] Al Salammah, Mohammad
[Person:5602234] Al Balwi, Mohammed
[Person:5659980] Alfadhel, Majid
[Person:4839835] Alkuraya, Fowzan S
created[InstanceEdit:5659984] D'Eustachio, Peter, 2015-01-02
journalJ. Inherit. Metab. Dis.
pages997-1004
pubMedIdentifier23315216
titleTransaldolase deficiency: report of 12 new cases and further delineation of the phenotype
volume36
year2013
(literatureReference)[FailedReaction:5659989] Defective TALDO1 does not transform SH7P, GA3P to Fru(6)P, E4P [Homo sapiens]
[FailedReaction:5659998] Defective TALDO1 does not transform Fru(6)P, E4P to SH7P, GA3P [Homo sapiens]
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