A suspicion index tool to aid the diagnosis and treatment of ASMD.
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| Title: | A suspicion index tool to aid the diagnosis and treatment of ASMD. |
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| Authors: | Wiesinger AM; Institute of Inherited Metabolic Diseases, Paracelsus Medical University, Strubergasse 21, Salzburg, 5020, Austria. anna.wiesinger@pmu.ac.at.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy. anna.wiesinger@pmu.ac.at., Zimmermann G; Biostatistics and Big Medical Data, IDA Lab, Paracelsus Medical University, Salzburg, Austria.; Department of Artificial Intelligence and Human Interfaces, Faculty of Digital and Analytical Sciences, Paris Lodron University, Salzburg, Austria., Lauth W; Biostatistics and Big Medical Data, IDA Lab, Paracelsus Medical University, Salzburg, Austria., Muschol N; International Center for Lysosomal Disorders (ICLD), Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy., Möslinger D; Department for Pediatrics and Adolescent Medicine, Inborn Errors of Metabolism, Medical University of Vienna, Vienna, Austria.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy., Konstantopoulou V; Department for Pediatrics and Adolescent Medicine, Inborn Errors of Metabolism, Medical University of Vienna, Vienna, Austria.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy., Scholl-Bürgi S; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy., Karall D; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy., Giugliani R; Department of Genetics, UFRGS, Medical Genetics Service and Biodiscovery Laboratory, HCPA, DASA Casa dos Raros, Porto Alegre, Brazil., Mengel E; SphinCS GmbH, Institute of Clinical Science for LSD, Hochheim, Germany., Aigner E; Obesity Research Unit, Paracelsus Medical University, University Hospital Salzburg, Salzburg, Austria., Weghuber D; Department of Pediatrics, Paracelsus Medical University, University Hospital Salzburg, Salzburg, Austria., Lagler FB; Institute of Inherited Metabolic Diseases, Paracelsus Medical University, Strubergasse 21, Salzburg, 5020, Austria.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Mar 27; Vol. 21 (1). Date of Electronic Publication: 2026 Mar 27. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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