Hiroko Yanagisawa

Kawasaki, Japan

Last Updated: 09/26/2026

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Found 15 publications

Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease.

Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease.

Journal: Journal of inherited metabolic disease

Published: May 27, 2022

Water intoxication: A clue to the presence of classical Fabry disease.

Water intoxication: A clue to the presence of classical Fabry disease.

Journal: Brain & development

Published: January 27, 2022

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Journal: Molecular genetics and metabolism reports

Published: April 02, 2019

Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.

Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.

Journal: Molecular genetics and metabolism

Published: January 03, 2019

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.

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.

Journal: Molecular genetics and metabolism

Published: March 17, 2018

Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease.

Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease.

Journal: Molecular genetics and metabolism reports

Published: September 19, 2017

L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease.

L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease.

Journal: Scientific reports

Published: May 22, 2017

Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy.

Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy.

Journal: Molecular genetics and metabolism reports

Published: March 14, 2017

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

Journal: Molecular genetics and metabolism

Published: January 06, 2017

Neonicotinoid Insecticides Alter the Gene Expression Profile of Neuron-Enriched Cultures from Neonatal Rat Cerebellum.

Neonicotinoid Insecticides Alter the Gene Expression Profile of Neuron-Enriched Cultures from Neonatal Rat Cerebellum.

Journal: International journal of environmental research and public health

Published: July 20, 2016

Involvement of oxidative stress and impaired lysosomal degradation in amiodarone-induced schwannopathy.

Involvement of oxidative stress and impaired lysosomal degradation in amiodarone-induced schwannopathy.

Journal: The European journal of neuroscience

Published: May 28, 2015

Upregulation of galectin-3 in immortalized Schwann cells IFRS1 under diabetic conditions.

Upregulation of galectin-3 in immortalized Schwann cells IFRS1 under diabetic conditions.

Journal: Neuroscience research

Published: July 25, 2014

Showing 1-12 of 15

Last Updated: 09/26/2026