Identification of genotype–biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency

Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessive disorder characterized by hypoglycemic lactic acidosis. Due to the rarity of FBPase deficiency, the mechanism by which the mutations cause enzyme activity loss still remains unclear. Here we identi...

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Detalles Bibliográficos
Autores principales: Sakuma, Ikki, Nagano, Hidekazu, Hashimoto, Naoko, Fujimoto, Masanori, Nakayama, Akitoshi, Fuchigami, Takahiro, Taki, Yuki, Matsuda, Tatsuma, Akamine, Hiroyuki, Kono, Satomi, Kono, Takashi, Yokoyama, Masataka, Nishimura, Motoi, Yokote, Koutaro, Ogasawara, Tatsuki, Fujii, Yoichi, Ogawa, Seishi, Lee, Eunyoung, Miki, Takashi, Tanaka, Tomoaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382519/
https://www.ncbi.nlm.nih.gov/pubmed/37507476
http://dx.doi.org/10.1038/s42003-023-05160-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382519/
https://www.ncbi.nlm.nih.gov/pubmed/37507476
http://dx.doi.org/10.1038/s42003-023-05160-y

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