Detalhe da pesquisa
1.
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
J Inherit Metab Dis
; 43(4): 819-826, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31967322
2.
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PLoS Genet
; 12(1): e1005679, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26741492
3.
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
J Inherit Metab Dis
; 40(5): 685-693, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28429146
4.
High-dose Cepharanthin for pediatric chronic immune thrombocytopenia in Japan.
Pediatr Int
; 59(3): 303-308, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27596055
5.
[Successful treatment with chloramphenicol in four pediatric cases of intractable bacterial meningitis].
No To Hattatsu
; 48(1): 29-33, 2016 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-27012107
6.
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.
Pediatr Int
; 56(2): 180-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24266892
7.
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Sci Rep
; 11(1): 3531, 2021 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33574353
8.
First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.
Mol Genet Metab Rep
; 21: 100526, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31720228
9.
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Sci Rep
; 11(1): 22682, 2021 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34785734
10.
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.
Brain Dev
; 37(7): 719-24, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25466440
11.
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
Ann Clin Transl Neurol
; 1(5): 361-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356405
12.
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.
Mitochondrion
; 11(1): 104-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20708716