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endingPage 227
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publicationName Journal of Inherited Metabolic Disease
startingPage 203
bibliographicCitation Pavlů-Pereira H, Asfaw B, Poupctová H, Ledvinová J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novotná Z, Chudoba D, Elleder M. Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis. 2005;28(2):203–27. doi: 10.1007/s10545-005-5671-5. PMID: 15877209.
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date 200504
identifier https://pubmed.ncbi.nlm.nih.gov/15877209
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language English
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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
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