A patient with urinary succinylacetone-negative hereditary tyrosinemia type 1
Pediatr Int
.
2023 Jan-Dec;65(1):e15644.
doi: 10.1111/ped.15644.
Authors
Jun Mori
1
2
,
Taizo Furukawa
3
,
Kazuki Kodo
4
,
Hisakazu Nakajima
1
,
Miori Yuasa
5
,
Mitsuru Kubota
6
,
Yosuke Shigematsu
5
Affiliations
1
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
2
Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
3
Department of Pediatric Surgery, Kyoto Prefectural University of Medicine, Kyoto, Japan.
4
Department of Pediatrics, Kyoto Saiseikai Hospital, Kyoto, Japan.
5
Department of Pediatrics, Faculty of Medical Science, University of Fukui, Fukui, Japan.
6
Department of General Pediatrics & Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.
PMID:
37795850
DOI:
10.1111/ped.15644
No abstract available
Keywords:
hereditary tyrosinemia type 1; mass screening; succinylacetone.
MeSH terms
Heptanoates
Humans
Tyrosinemias* / complications
Tyrosinemias* / diagnosis
Substances
succinylacetone
Heptanoates