Detalhe da pesquisa
1.
High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan.
Clin Exp Nephrol
; 27(3): 288-294, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574104
2.
Guide for diagnosis and treatment of hyperphenylalaninemia.
Pediatr Int
; 63(1): 8-12, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33423362
3.
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
4.
Clinical and genetic features of lysinuric protein intolerance in Japan.
Pediatr Int
; 58(10): 979-983, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26865117
5.
Inborn errors of ketone body utilization.
Pediatr Int
; 57(1): 41-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25559898
6.
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
7.
Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylase deficiency.
Mol Genet Metab
; 105(3): 404-7, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22264779
8.
Long-term outcome and intervention of urea cycle disorders in Japan.
J Inherit Metab Dis
; 35(5): 777-85, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22167275
9.
Early clinical signs and treatment of Menkes disease.
Mol Genet Metab Rep
; 31: 100849, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242581
10.
Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria.
Mol Genet Metab
; 103(3): 220-5, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21514861
11.
Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening.
J Bone Miner Metab
; 29(6): 737-43, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21594581
12.
[Acute encephalopathy in inherited metabolic diseases].
Nihon Rinsho
; 69(3): 477-82, 2011 Mar.
Artigo
em Japonês
| MEDLINE | ID: mdl-21400842
13.
A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
Mol Genet Metab
; 100(4): 339-44, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20488739
14.
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
J Hum Genet
; 60(7): 347, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25994872
15.
A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
J Inherit Metab Dis
; 33 Suppl 3: S307-13, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20652411
16.
Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.
Tohoku J Exp Med
; 221(3): 191-5, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20543534
17.
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.
Mol Genet Metab Rep
; 24: 100610, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32509533
18.
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.
Mol Genet Metab
; 97(1): 21-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19232506
19.
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
Mol Genet Metab
; 97(4): 292-6, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19520594
20.
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency.
Eur J Pediatr
; 168(3): 297-302, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18560889