List of works - Motomichi Kosuga - Paulina

List of works by Motomichi Kosuga

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

scientific article published on 31 October 2017

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

scientific article published on 18 March 2016

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

scientific article published on 31 August 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

scientific article published on 7 May 2016

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

scientific article published on 22 April 2016

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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