Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals - Top Articles selected by the Editor - Molecular Genetics and Metabolism Reports - Journal - Elsevier
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Molecular Genetics and Metabolism Reports is a peer reviewed, open access journal that publishes reports describing investigations that use the tools of bioch…
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency, Orphanet Journal of Rare Diseases
Lipidomics and metabolomics signatures of SARS-CoV-2 mediators/receptors in peripheral leukocytes, jejunum and colon - Computational and Structural Biotechnology Journal
Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals - ScienceDirect
Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals - ScienceDirect
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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease - Mazzacuva - 2016 - FEBS Letters - Wiley Online Library
An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan, Orphanet Journal of Rare Diseases
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