Detalhe da pesquisa
1.
BCS1L mutations produce Fanconi syndrome with developmental disability.
J Hum Genet
; 67(3): 143-148, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34650211
2.
A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection.
J Inherit Metab Dis
; 44(2): 358-366, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32965044
3.
Arginine therapy in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
Curr Opin Clin Nutr Metab Care
; 23(1): 17-22, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31693521
4.
Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial.
J Neurol Neurosurg Psychiatry
; 90(5): 529-536, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29666206
5.
Drastic fall of growth differentiation factor 15 in influenza encephalopathy.
Pediatr Int
; 66(1): e15768, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38863268
6.
Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.
J Hum Genet
; 63(2): 249-254, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29167554
7.
Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.
Ann Neurol
; 78(5): 814-23, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26463265
8.
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.
Tohoku J Exp Med
; 238(4): 311-6, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27063563
9.
Successful Glycemic Control Decreases the Elevated Serum FGF21 Level without Affecting Normal Serum GDF15 Levels in a Patient with Mitochondrial Diabetes.
Tohoku J Exp Med
; 239(2): 89-94, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27212224
10.
Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study.
Mol Genet Metab
; 112(2): 133-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24830361
11.
[The treatment of mitochondrial disorders, present and future].
Nihon Rinsho
; 72(1): 175-84, 2014 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-24597368
12.
Molecular pathology of MELAS and L-arginine effects.
Biochim Biophys Acta
; 1820(5): 608-14, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21944974
13.
MELAS: a nationwide prospective cohort study of 96 patients in Japan.
Biochim Biophys Acta
; 1820(5): 619-24, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21443929
14.
Evaluation of systemic redox states in patients carrying the MELAS A3243G mutation in mitochondrial DNA.
Eur Neurol
; 67(4): 232-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22517274
15.
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report.
Brain Dev
; 44(1): 56-62, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34452803
16.
Growth differentiation factor 15 as a novel diagnostic and therapeutic marker for autoimmune hepatitis.
Sci Rep
; 12(1): 8759, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35610317
17.
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
Adv Genet (Hoboken)
; 3(1)2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35317023
18.
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.
Biochim Biophys Acta
; 1800(3): 313-5, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19616603
19.
Temporal changes and control variables of growth differentiation factor 15 levels during the first week of life in hospitalised newborn infants.
Mitochondrion
; 61: 25-30, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508892
20.
Growth differentiation factor 15 as a useful biomarker of heart failure in young patients with unrepaired congenital heart disease of left to right shunt.
J Cardiol
; 75(6): 697-701, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883956