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Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies
Open accessAbstract
1. A description is given of two unrelated albinos with hemorrhagic diathesis and peculiar, pigmented reticular cells in the bone marrow. 2. On examining hemostasis, the only consistent abnormal laboratory finding was a prolonged bleeding time, so that the hemorrhagic disorder fell into the group of so-called pseudohemophilias. 3. Unusual reticuloendothelial cells in the bone marrow were packed with blackish or greenish blue granules or particles. According to the histochemical study, the substance in the cytoplasm was probably of a lipid nature. These cells could not be identified with similar cells of this kind which have so far been described. 4. The combination of the above described congenital abnormalities (albinism, pseudohemophilia and unusual pigmented macrophages in the bone marrow) in two unrelated patients suggests that a common syndrome is present.
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Cited by
Grønskov, K., Ek, J., & Brondum-Nielsen, K. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-43 · Cited by 569
Dell'Angelica, E. C., Mullins, C., Caplan, S., & Bonifacino, J. S. (2000) · The FASEB Journal · doi:10.1096/fasebj.14.10.1265 · Cited by 503
The biogenesis of lysosomes and lysosome-related organelles
Luzio, J. P., Hackmann, Y., Dieckmann, N. M. G., & Griffiths, G. M. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016840 · Cited by 330
Gahl, W. A., Brantly, M., Kaiser-Kupfer, M. I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L. F., Kuehl, E. M., Troendle, J., & Bernardini, I. (1998) · New England Journal of Medicine · doi:10.1056/nejm199804303381803 · Cited by 308
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Metadata
- Authors
- HERMANSKY, F., & PUDLAK, P.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 1959-02-01
- Volume
- 14
- Issue
- 2
- Pages
- 162-169
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W168978644
- Cited by
- 549
- References
- 0
- FWCI
- 1.91
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies. https://app.cochat.ai/papers/10.1182/blood.v14.2.162.162
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- HERMANSKY, F., & PUDLAK, P. (1959). Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies. Blood. https://doi.org/10.1182/blood.v14.2.162.162
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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