Kousaku Ohno

Yonago, Japan

Last Updated: 09/26/2026

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Found 56 publications

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 31, 2021

Differential mode of cholesterol inclusion with 2-hydroxypropyl-cyclodextrins increases safety margin in treatment of Niemann-Pick disease type C.

Differential mode of cholesterol inclusion with 2-hydroxypropyl-cyclodextrins increases safety margin in treatment of Niemann-Pick disease type C.

Journal: British journal of pharmacology

Published: June 29, 2020

Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.

Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.

Journal: International journal of molecular sciences

Published: September 26, 2019

Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.

Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.

Journal: Journal of lipid research

Published: March 19, 2019

In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C.

In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C.

Journal: International journal of molecular sciences

Published: February 08, 2019

A Study on the Incidence and Comorbidities of Autism Spectrum Disorders Accompanied by Intellectual Disabilities in Yonago City, Japan.

A Study on the Incidence and Comorbidities of Autism Spectrum Disorders Accompanied by Intellectual Disabilities in Yonago City, Japan.

Journal: Yonago acta medica

Published: October 01, 2018

GBA haploinsufficiency accelerates alpha-synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson's disease.

GBA haploinsufficiency accelerates alpha-synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson's disease.

Journal: Human molecular genetics

Published: September 13, 2018

Vasodilator-stimulated phosphoprotein (VASP) is not a major mediator of platelet aggregation, thrombogenesis, haemostasis, and antiplatelet effect of prasugrel in rats.

Vasodilator-stimulated phosphoprotein (VASP) is not a major mediator of platelet aggregation, thrombogenesis, haemostasis, and antiplatelet effect of prasugrel in rats.

Journal: Scientific reports

Published: May 01, 2018

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.

Journal: BMC neurology

Published: March 22, 2018

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.

Journal: Brain & development

Published: December 21, 2017

Role of 6-O-α-maltosyl-β-cyclodextrin in lysosomal cholesterol deprivation in Npc1-deficient Chinese hamster ovary cells.

Role of 6-O-α-maltosyl-β-cyclodextrin in lysosomal cholesterol deprivation in Npc1-deficient Chinese hamster ovary cells.

Journal: Carbohydrate research

Published: September 13, 2017

Corrigendum to "Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child".

Corrigendum to "Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child".

Journal: Case reports in pediatrics

Published: July 17, 2017

Showing 1-12 of 56

Last Updated: 09/26/2026