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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
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&...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Genet Metab Rep |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Elsevier
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5121313/ https://ncbi.nlm.nih.gov/pubmed/27896096 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.05.001 |
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