Masayoshi Nagao

Sapporo, Japan

Last Updated: 09/26/2026

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Found 14 publications

Myofibre Density Reveals a Critical Threshold Around Age 6 in Steroid-Naïve Duchenne Muscular Dystrophy: A Retrospective Observational Study.

Myofibre Density Reveals a Critical Threshold Around Age 6 in Steroid-Naïve Duchenne Muscular Dystrophy: A Retrospective Observational Study.

Journal: Neuropathology and applied neurobiology

Published: June 27, 2025

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

Journal: Journal of inherited metabolic disease

Published: May 22, 2023

Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.

Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.

Journal: Journal of inherited metabolic disease

Published: September 08, 2021

Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizures.

Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizures.

Journal: Epilepsia open

Published: July 09, 2021

Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.

Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.

Journal: Intractable & rare diseases research

Published: May 17, 2021

Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry.

Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry.

Journal: International journal of neonatal screening

Published: December 12, 2017

Immunochromatography test for rapid diagnosis of Mycoplasma pneumoniae infection.

Immunochromatography test for rapid diagnosis of Mycoplasma pneumoniae infection.

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

Published: February 21, 2017

A nationwide survey of common viral infections in childhood among patients with primary immunodeficiency diseases.

A nationwide survey of common viral infections in childhood among patients with primary immunodeficiency diseases.

Journal: The Journal of infection

Published: May 03, 2016

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.

Journal: Molecular genetics and metabolism

Published: September 30, 2013

Fatigue and quality of life in citrin deficiency during adaptation and compensation stage.

Fatigue and quality of life in citrin deficiency during adaptation and compensation stage.

Journal: Molecular genetics and metabolism

Published: December 13, 2012

Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation.

Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation.

Journal: Molecular genetics and metabolism

Published: September 18, 2012

Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.

Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.

Journal: Molecular genetics and metabolism

Published: June 25, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026