Detalhe da pesquisa
1.
Development of a Highly Sensitive and Rapid Liquid Chromatography-Tandem Mass Spectrometric Method Using a Basic Mobile Phase Additive to Determine the Characteristics of the Urinary Metabolites for Niemann-Pick Disease Type C.
Biol Pharm Bull
; 45(9): 1259-1268, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36047194
2.
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.
Mol Genet Metab
; 133(3): 277-288, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34090759
3.
The definition of neuronopathic Gaucher disease.
J Inherit Metab Dis
; 43(5): 1056-1059, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32242941
4.
The Lotus japonicus nucleoporin GLE1 is involved in symbiotic association with rhizobia.
Physiol Plant
; 168(3): 590-600, 2020 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31115057
5.
Development of a Diagnostic Screening Strategy for Niemann-Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine.
Biol Pharm Bull
; 43(9): 1398-1406, 2020 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32581190
6.
Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.
J Lipid Res
; 60(12): 2074-2081, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31586016
7.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Intern Med J
; 49(5): 578-591, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30414226
8.
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.
Int J Mol Sci
; 20(20)2019 Oct 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31658747
9.
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
BMC Neurol
; 18(1): 117, 2018 Aug 17.
Artigo
Inglês
| MEDLINE | ID: mdl-30119649
10.
[Clinical characteristics of early juvenile GM2 gangliosidosis: a case report].
No To Hattatsu
; 49(3): 203-6, 2017 05.
Artigo
Japonês
| MEDLINE | ID: mdl-30113798
11.
Brain pericytes serve as microglia-generating multipotent vascular stem cells following ischemic stroke.
J Neuroinflammation
; 13(1): 57, 2016 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26952098
12.
Brain vascular pericytes following ischemia have multipotential stem cell activity to differentiate into neural and vascular lineage cells.
Stem Cells
; 33(6): 1962-74, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25694098
13.
pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases.
Angew Chem Int Ed Engl
; 54(40): 11696-700, 2015 Sep 28.
Artigo
Inglês
| MEDLINE | ID: mdl-26386364
14.
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan.
Orphanet J Rare Dis
; 19(1): 11, 2024 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38183145
15.
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.
Mol Genet Metab
; 110(3): 401-4, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24001525
16.
Effects of cyclodextrin in two patients with Niemann-Pick Type C disease.
Mol Genet Metab
; 108(1): 76-81, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23218948
17.
Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study.
Mol Genet Metab Rep
; 36: 100994, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37576570
18.
Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease.
Brain Dev
; 45(9): 517-522, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37429811
19.
Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3.
Brain Dev
; 44(4): 308-312, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34991910
20.
Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan.
Orphanet J Rare Dis
; 17(1): 280, 2022 07 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35854314