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Natural History of Acid Sphingomyelinase Deficiency among European Patients During Childhood and Adolescence: A Retrospective Observational Study

Eugen Mengel,Maurizio Scarpa,Nathalie Guffon,Simon A. Jones, Vishal Goriya,Jerome Msihid, Valerie Dyevre, Carly Rodriguez,Maja Gasparic,Lubomyra Nalysnyk,Fernando Laredo,Ruth Pulikottil-Jacob

EUROPEAN JOURNAL OF MEDICAL GENETICS（2024）

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关键词
Acid sphingomyelinase deficiency,Natural history,Retrospective study,ASMD type B,ASMD type A/B
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