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Diagnostic odyssey for patients with acid sphingomyelinase ..:
Andrew Doerr
;
Maliha Farooq
;
Chad Faulkner
...
http://www.sciencedirect.com/science/article/pii/S2214426924000053. , 2024
Link:
https://doi.org/10.1016/j.ymgmr.2024.101052
RT Journal T1 <Title>Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:3e62dc89d32a45dba8197f4efb22976e&Exemplar=1&LAN=DE A1 Andrew Doerr A1 Maliha Farooq A1 Chad Faulkner A1 Rebecca Gould A1 Krista Perry A1 Ruth Pulikottil-Jacob A1 Pamela Rajasekhar PB Elsevier YR 2024 K1 Acid sphingomyelinase deficiency K1 ASMD K1 Niemann–Pick K1 Diagnosis K1 Clinical presentation K1 Diagnostic delay K1 Medicine (General) K1 R5-920 K1 Biology (General) K1 QH301-705.5 JF http://www.sciencedirect.com/science/article/pii/S2214426924000053 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgmr.2024.101052 DO https://doi.org/10.1016/j.ymgmr.2024.101052 SF ELIB - SuUB Bremen
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