Concepedia

Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients

Ming-Jia Hsu, Fu-Pang Chang, Yung-Hsiu Lu, Sheng‐Che Hung, Yu-Chen Wang, An-Hang Yang, Han-Jui Lee, Shih‐Hsien Sung, Yen-Feng Wang, Wen‐Chung Yu,

Genetics in Medicine · 2018 · 21 citations · 33 references

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Concepts

References

33

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 1K citations · Full text

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An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

Shoichiro Nakao, Toshihiro Takenaka, Masato Maeda et al. · New England Journal of Medicine · 1995 · 765 citations · Full text

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Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy

Frank Weidemann, Markus Niemann, Frank Breunig et al. · Circulation · 2009 · 484 citations · Full text

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Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1

Shoichiro Nakao, Chihaya Kodama, Toshihiro Takenaka et al. · Kidney International · 2003 · 440 citations

, , +12