Fabry disease in a Japanese population-molecular and biochemical characteristics

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Fabry disease in a Japanese population-molecular and biochemical characteristics

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wetenschappelijk artikel

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наукова стаття, опублікована в грудні 2018

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Fabry disease in a Japanese population-molecular and biochemical characteristics

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Fabry disease in a Japanese population-molecular and biochemical characteristics

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Fabry disease in a Japanese population-molecular and biochemical characteristics

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Fabry disease in a Japanese population-molecular and biochemical characteristics

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Fabry disease in a Japanese population-molecular and biochemical characteristics

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Fabry disease in a Japanese population-molecular and biochemical characteristics

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P1476

Fabry disease in a Japanese population-molecular and biochemical characteristics

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P2093

Atsuko Sato

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Hitoshi Sakuraba

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Kazuki Ohno

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Seiji Saito

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Tadayasu Togawa

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Takahiro Tsukimura

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Tomoko Ohtsuka

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Tomoko Shiga

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Toshie Tanaka

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P2860

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.

Monogenic traits are not simple: lessons from phenylketonuria.

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.

High incidence of later-onset fabry disease revealed by newborn screening

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

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73-79

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P31

scholarly article

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10.1016/J.YMGMR.2018.10.004

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P407

English

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P577

2018-12-01T00:00:00Z

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P698

30386727

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P921

endocrinology

molecular biology

P932

6205336

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