Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

Background Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities. Aim The Gaucher Earlier Dia...

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Vydáno v:	Internal medicine journal Ročník 49; číslo 5; s. 578 - 591
Hlavní autoři:	Mehta, Atul, Kuter, David J., Salek, Sam S., Belmatoug, Nadia, Bembi, Bruno, Bright, Jeremy, vom Dahl, Stephan, Deodato, Federica, Di Rocco, Maja, Göker‐Alpan, Ozlem, Hughes, Derralynn A., Lukina, Elena A., Machaczka, Maciej, Mengel, Eugen, Nagral, Aabha, Nakamura, Kimitoshi, Narita, Aya, Oliveri, Beatriz, Pastores, Gregory, Pérez‐López, Jordi, Ramaswami, Uma, Schwartz, Ida V., Szer, Jeff, Weinreb, Neal J., Zimran, Ari
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Melbourne John Wiley & Sons Australia, Ltd 01.05.2019 Wiley Subscription Services, Inc
Témata:	algorithm Anemia Consensus Delphi Technique Diagnosis Diagnostic tests Early Diagnosis Epilepsy Family medical history Gammopathy Gaucher Disease - diagnosis Gaucher Disease - physiopathology Gaucher's disease Humans inborn error Kyphosis lysosomal storage disease metabolism Original Physicians - standards Splenomegaly Thrombocytopenia Variables inborn error metabolism lysosomal storage disease thrombocytopenia splenomegaly algorithm
ISSN:	1444-0903, 1445-5994, 1445-5994
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