ArticleMolecular genetics and metabolism reports2014
Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy.
Article in Molecular genetics and metabolism reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Left-dominant arrhythmogenic cardiomyopathy with a nonsense mutation in DSP.ESC heart failure · 2020Article
- Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.European neurology · 2020Review
- Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder.Orphanet journal of rare diseases · 2019Article
- Review
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15 authors at 7 institutions in 1 country.
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Abstract
Adipose triglyceride lipase (ATGL) deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy presents distinct fat-containing vacuoles known as Jordans' anomaly in peripheral leucocytes. To develop an automatic notification system for Jordans' anomaly in ATGL-deficient patients, we analyzed circulatory leukocyte scattergrams on automated hematology analyzer XE-5000. The BASO-WX and BASO-WY values were found to be significantly higher in patients than those in non-affected subjects. The two parameters measured by automated hematology analyzer may be expected to provide an important diagnostic clue for homozygous ATGL deficiency.
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