Yoshiko Murakami

Osaka, Japan

Last Updated: 09/26/2026

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Found 113 publications

Case Report: Adult-onset diffuse hepatic hemangiomatosis with rapid progression: an autopsy case with diagnostic difficulty.

Case Report: Adult-onset diffuse hepatic hemangiomatosis with rapid progression: an autopsy case with diagnostic difficulty.

Journal: Frontiers in medicine

Published: May 25, 2026

Lifelong phylogenetic reconstruction of immune-mediated clonal trajectories in paroxysmal nocturnal hemoglobinuria.

Lifelong phylogenetic reconstruction of immune-mediated clonal trajectories in paroxysmal nocturnal hemoglobinuria.

Journal: Leukemia

Published: March 10, 2026

Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities.

Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities.

Journal: American journal of medical genetics. Part A

Published: February 17, 2026

Optimized AAV vector enables potent therapeutic rescue of inherited glycosylphosphatidylinositol deficiency in mice.

Optimized AAV vector enables potent therapeutic rescue of inherited glycosylphosphatidylinositol deficiency in mice.

Journal: Molecular therapy. Advances

Published: January 05, 2026

Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system.

Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system.

Journal: bioRxiv : the preprint server for biology

Published: December 19, 2025

Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficiencies.

Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficiencies.

Journal: The Journal of biological chemistry

Published: December 04, 2025

A Case Report of Pitt-Hopkins Syndrome With Seasonal Exacerbation of Respiratory Dysregulation.

A Case Report of Pitt-Hopkins Syndrome With Seasonal Exacerbation of Respiratory Dysregulation.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: November 22, 2025

Clinical validation of CD16b as a standardized biomarker for inherited GPI deficiencies.

Clinical validation of CD16b as a standardized biomarker for inherited GPI deficiencies.

Journal: Brain & development

Published: October 21, 2025

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Journal: Annals of clinical and translational neurology

Published: September 10, 2025

Evolutionary dynamics of heparan sulfate utilization by SARS-CoV-2.

Evolutionary dynamics of heparan sulfate utilization by SARS-CoV-2.

Journal: mBio

Published: June 23, 2025

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

Journal: American journal of medical genetics. Part A

Published: May 29, 2025

Biosynthesis of GPI anchored proteins, its deficiencies and treatment.

Biosynthesis of GPI anchored proteins, its deficiencies and treatment.

Journal: Journal of human genetics

Published: April 29, 2025

Showing 1-12 of 113

Last Updated: 09/26/2026