Blood Smear as A Clue to The Diagnosis of GM1 - Gangliosidosis
GM1 gangliosidosis is a rare hereditary disease from the group of lysosomal accumulation diseases, caused by deficiency of the enzyme Β-galactosidase and leading to abnormal accumulation of metabolic by-products. GM1 – gangliosidosis is accompanied by a number of cytological disorders: multiple vacu...
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| Veröffentlicht in: | Annals of hematology & oncology 2024-04, Vol.11 (2) |
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| container_title | Annals of hematology & oncology |
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| creator | TV, Konyukhova EV, Trukhina |
| description | GM1 gangliosidosis is a rare hereditary disease from the group of lysosomal accumulation diseases, caused by deficiency of the enzyme Β-galactosidase and leading to abnormal accumulation of metabolic by-products. GM1 – gangliosidosis is accompanied by a number of cytological disorders: multiple vacuoles in lymphocytes; faintly stained, irregularly distributed granules and cytoplasmic vacuolation in eosinophils [1-3]. The article presents a clinical case of GM-1 – gangliosidosis type 1 of a 5-month-old child, which became possible to assume during the study of peripheral blood smears. |
| doi_str_mv | 10.26420/annhematoloncol.2024.1449 |
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| language | eng |
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| title | Blood Smear as A Clue to The Diagnosis of GM1 - Gangliosidosis |
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