Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
- DOI
- 10.1007/s10545-005-5671-5
- Published
- 2005
- Container
- Journal of inherited metabolic disease
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1007/s10545-005-5671-5,
title = {Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.},
author = {Pavlů-Pereira H and Asfaw B and Poupctová H and Ledvinová J and Sikora J and Vanier MT and Sandhoff K and Zeman J and Novotná Z and Chudoba D and Elleder M},
year = {2005},
journal = {Journal of inherited metabolic disease},
doi = {10.1007/s10545-005-5671-5},
url = {https://doi.org/10.1007/s10545-005-5671-5}
}RIS
TY - JOUR TI - Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. AU - Pavlů-Pereira H AU - Asfaw B AU - Poupctová H AU - Ledvinová J AU - Sikora J AU - Vanier MT AU - Sandhoff K AU - Zeman J AU - Novotná Z AU - Chudoba D AU - Elleder M PY - 2005 JO - Journal of inherited metabolic disease DO - 10.1007/s10545-005-5671-5 UR - https://doi.org/10.1007/s10545-005-5671-5 ER -
APA
H, P., B, A., H, P., J, L., J, S., MT, V., K, S., J, Z., Z, N., D, C., & M, E. (2005). Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.. Journal of inherited metabolic disease. https://doi.org/10.1007/s10545-005-5671-5
Source records
- pubmed · retrieved 2026-09-26T07:18:24.708Z