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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.
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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  Data: A suspicion index tool to aid the diagnosis and treatment of ASMD.
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  Data: <searchLink fieldCode="AU" term="%22Wiesinger+AM%22">Wiesinger AM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Zimmermann+G%22">Zimmermann G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lauth+W%22">Lauth W</searchLink>; Biostatistics and Big Medical Data, IDA Lab, Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Muschol+N%22">Muschol N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Möslinger+D%22">Möslinger D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Konstantopoulou+V%22">Konstantopoulou V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Scholl-Bürgi+S%22">Scholl-Bürgi S</searchLink>; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Karall+D%22">Karall D</searchLink>; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Giugliani+R%22">Giugliani R</searchLink>; Department of Genetics, UFRGS, Medical Genetics Service and Biodiscovery Laboratory, HCPA, DASA Casa dos Raros, Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22Mengel+E%22">Mengel E</searchLink>; SphinCS GmbH, Institute of Clinical Science for LSD, Hochheim, Germany.<br /><searchLink fieldCode="AU" term="%22Aigner+E%22">Aigner E</searchLink>; Obesity Research Unit, Paracelsus Medical University, University Hospital Salzburg, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Weghuber+D%22">Weghuber D</searchLink>; Department of Pediatrics, Paracelsus Medical University, University Hospital Salzburg, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Lagler+FB%22">Lagler FB</searchLink>; Institute of Inherited Metabolic Diseases, Paracelsus Medical University, Strubergasse 21, Salzburg, 5020, Austria.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Udine, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Mar 27; Vol. 21 (1). <i>Date of Electronic Publication: </i>2026 Mar 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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              Text: 2026 Mar 27
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