Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.
Acetaminophen
Actionable genetic disorders
Pentose phosphate pathway
Transaldolase deficiency
Treatment of genetic diseases
Whole exome sequencing
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
2019
2019
Historique:
received:
25
03
2018
accepted:
18
05
2018
revised:
14
05
2018
pubmed:
21
6
2018
medline:
21
6
2018
entrez:
21
6
2018
Statut:
ppublish
Résumé
Transaldolase deficiency (MIM#: 606003) is a rare autosomal recessive defect in the pentose phosphate pathway. Affected individuals are at risk for progressive liver failure and hepatocarcinoma. In the transaldolase-deficient mouse model (Taldo1
Identifiants
pubmed: 29923087
doi: 10.1007/8904_2018_116
pmc: PMC6323034
doi:
Types de publication
Journal Article
Langues
eng
Pagination
9-15Subventions
Organisme : NIH HHS
ID : DP5 OD017877
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103538
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG006493
Pays : United States
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