Detalhe da pesquisa
1.
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
J Pediatr
; 214: 151-157.e6, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477378
2.
Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.
Mol Clin Oncol
; 12(4): 329-335, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32190315
3.
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Mol Genet Metab
; 94(1): 61-7, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18289905
4.
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
J Chromatogr B Analyt Technol Biomed Life Sci
; 878(20): 1673-6, 2010 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20392676