1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerpri...
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
About this item
Full title
Author / Creator
Saffari, Afshin , Cannet, Claire , Blaschek, Astrid , Hahn, Andreas , Hoffmann, Georg F. , Johannsen, Jessika , Kirsten, Romy , Kockaya, Musa , Kölker, Stefan , Müller-Felber, Wolfgang , Roos, Andreas , Schäfer, Hartmut , Schara, Ulrike , Spraul, Manfred , Trefz, Friedrich K. , Vill, Katharina , Wick, Wolfgang , Weiler, Markus , Okun, Jürgen G. and Ziegler, Andreas
Publisher
London: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers renders clinical assessment and prognosis of possibly already affected newborns with a positive newborn screening result for SMA imprecise and diff...
Alternative Titles
Full title
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Authors, Artists and Contributors
Author / Creator
Cannet, Claire
Blaschek, Astrid
Hahn, Andreas
Hoffmann, Georg F.
Johannsen, Jessika
Kirsten, Romy
Kockaya, Musa
Kölker, Stefan
Müller-Felber, Wolfgang
Roos, Andreas
Schäfer, Hartmut
Schara, Ulrike
Spraul, Manfred
Trefz, Friedrich K.
Vill, Katharina
Wick, Wolfgang
Weiler, Markus
Okun, Jürgen G.
Ziegler, Andreas
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_d1420f1c464d4e51b184e3fd1fc57e55
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d1420f1c464d4e51b184e3fd1fc57e55
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-021-02075-x
