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A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

artículo científico publicado en 2017

A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS.

artículo científico publicado en 2016

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan

artículo científico publicado en 2017

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry

scientific article published on 14 April 2020

Biosynthesis of long chain base in sphingolipids in animals, plants and fungi

scientific article published on 14 November 2019

Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals.

artículo científico publicado en 2018

Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles

artículo científico publicado en 2017

Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry

artículo científico publicado en 2016

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase

artículo científico publicado en 2016

Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry

scholarly article by Mari Ohira published in December 2018

Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry

artículo científico publicado en 2017

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

scientific article published on 10 October 2019

The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry

artículo científico publicado en 2016

The role of lipoxygenases in pathophysiology; new insights and future perspectives

artículo científico publicado en 2015

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported

scientific article published on 01 January 2019

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