Detalhe da pesquisa
1.
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Genet Med
; : 101165, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38762772
2.
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Mol Genet Metab
; 122(3): 67-75, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801073
3.
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Mol Genet Metab Rep
; 35: 100966, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967720
4.
Imaging of extrapontine myelinolysis preceding central pontine myelinolysis in a case of ornithine transcarbamylase deficiency with hyperammonaemia and hypokalaemia.
BMJ Neurol Open
; 4(2): e000354, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36437853