Detalles de la búsqueda
1.
Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease.
J Inherit Metab Dis
; 46(1): 143-152, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36220782
2.
A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II.
Mol Ther
; 29(2): 671-679, 2021 02 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33038326
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36047194
4.
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.
Mol Genet Metab
; 133(3): 277-288, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34090759
5.
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data.
Int J Mol Sci
; 22(20)2021 Oct 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34681597
6.
Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies.
Mol Genet Metab
; 130(3): 215-224, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32389574
7.
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial.
Mol Ther
; 27(2): 456-464, 2019 02 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30595526
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32581190
9.
Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.
J Lipid Res
; 60(12): 2074-2081, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31586016
10.
Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.
Mol Genet Metab
; 126(4): 460-465, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30871880
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31658747
12.
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.
Mol Genet Metab
; 124(1): 64-70, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29599076
13.
The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients.
Mol Genet Metab
; 124(2): 143-151, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29747997
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30119649
15.
A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy.
J Stroke Cerebrovasc Dis
; 27(11): 3046-3052, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30093193
16.
The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.
Mol Genet Metab
; 120(3): 173-179, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28087245
17.
A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice.
Mol Genet Metab
; 117(2): 140-3, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26051019
18.
Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report.
Hepatol Res
; 46(5): 477-82, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26385844
19.
Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).
Clin Exp Nephrol
; 20(2): 284-93, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26197777
20.
Characteristics of Cerebral Microbleeds in Patients with Fabry Disease.
J Stroke Cerebrovasc Dis
; 25(6): 1320-5, 2016 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-26987491