Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Dian Chang Hou"'
Autor:
Osamu Sakamoto, Toshihiro Ohura, Dian Chang Hou, Naruji Sugiyama, Kunihiro Fujii, Yoichi Matsubara, Hiroko Iwamoto, Shuhei Suzuki, Kuniaki Narisawa, Shigeo Kure
Publikováno v:
The Journal of Pediatrics. 135:375-378
Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine excretion or in dihydropteridine reductase activity. However, mutations wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70e9cd06aaa1b037964efd22bc81cf0c
https://doi.org/10.1016/s0022-3476(99)70138-1
https://doi.org/10.1016/s0022-3476(99)70138-1
Autor:
Hideo Sugie, Shigeo Kure, Naomi Kondo, Tokiko Fukuda, Yoichi Matsubara, Masahiro Hiratsuka, Dian Chang Hou, Atsushi Yamagishi, Yasuyuki Suzuki, Kuniaki Narisawa
Publikováno v:
The Journal of pediatrics. 137(2)
We report 2 patients with atypical glycogen storage disease type Ib without neutropenia or infectious complications. Neither patient was deficient in hepatic glucose-6-phosphatase activities in microsome-disrupted homogenates; both had mutations in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c485e859027944a9848fdd5ebe9acd71
https://pubmed.ncbi.nlm.nih.gov/10931421
https://pubmed.ncbi.nlm.nih.gov/10931421
Autor:
Dian Chang Hou, Yoji Hara, Yoichi Suzuki, Kuniaki Narisawa, Shigeo Kure, Yoichi Matsubara, Takehiko Inoue, Yoshikazu Kida, Yukihiro Hasegawa
Publikováno v:
American journal of medical genetics. 86(3)
Glycogen storage disease type Ib is caused by a mutation in the gene encoding microsomal glucose-6-phosphate (G6P) transporter. We determined the exon/intron organization of the G6P transporter gene. Four overlapping genomic fragments containing the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c697d8deb347f82da3d3b1a488ec7da2
https://pubmed.ncbi.nlm.nih.gov/10482875
https://pubmed.ncbi.nlm.nih.gov/10482875
Publikováno v:
Human Mutation. 13:341-341
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8a6cbc3d1e3b993fb44c6d3a6a4ad70
https://doi.org/10.1002/(sici)1098-1004(1999)13:4<341::aid-humu22>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1999)13:4<341::aid-humu22>3.0.co