Detalhe da pesquisa
1.
Clinical Features of Carnitine Deficiency Secondary to Pivalate-Conjugated Antibiotic Therapy.
J Pediatr
; 173: 183-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27059912
2.
Mutations in HADHB, which encodes the ß-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Am J Med Genet A
; 164A(5): 1180-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664533
3.
Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
Anal Bioanal Chem
; 405(4): 1345-51, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143007
4.
Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab
; 107(1-2): 237-40, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22796001
5.
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
Mol Genet Metab
; 107(1-2): 87-91, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22841441
6.
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Mol Genet Metab
; 102(3): 343-8, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21176883
7.
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots.
Int J Neonatal Screen
; 6(2): 43, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073034
8.
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
Mol Genet Metab
; 98(4): 372-7, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19699128
9.
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
Mol Genet Metab
; 96(2): 77-9, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19064330
10.
Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency.
Mol Genet Metab
; 95(1-2): 46-51, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18693053
11.
Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS.
Brain Dev
; 30(8): 520-6, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18262742
12.
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Mol Genet Metab Rep
; 16: 5-10, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29946514
13.
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.
J Chromatogr B Analyt Technol Biomed Life Sci
; 855(1): 80-7, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17301002
14.
Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
Brain Dev
; 39(1): 48-57, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27591119
15.
The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.
Mol Genet Metab Rep
; 9: 71-74, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27830119
16.
Internal Tandem Duplication in FLT3 Attenuates Proliferation and Regulates Resistance to the FLT3 Inhibitor AC220 by Modulating p21Cdkn1a and Pbx1 in Hematopoietic Cells.
PLoS One
; 11(7): e0158290, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27387666
17.
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
Brain Dev
; 38(3): 293-301, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26403312
18.
[Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults].
Rinsho Shinkeigaku
; 53(3): 191-5, 2013.
Artigo
em Japonês
| MEDLINE | ID: mdl-23524598
19.
Survivin selectively modulates genes deregulated in human leukemia stem cells.
J Oncol
; 2011: 946936, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21253548
20.
Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.
Brain Dev
; 32(5): 362-70, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19589653