A reappraisal of Gaucher disease-diagnosis and disease management algorithms

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[Gaucher disease--guidelines for diagnosis and management of adult patients].

Gaucher disease is an autosomal recessive disorder, characterized by decreased levels of the lysosomal enzyme glucocerebrosidase. This deficiency results in a decreased breakdown of this glycosphingolipid glucocerebroside, which accumulates in the lysosomes of the monocyte-macrophage system. It is the most common form of sphingolipidosis. Clinically, the principle signs of Gaucher's disease are...

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Correspondence: Gregory A Grabowski Cincinnati Children’s Hospital Medical Center, Division of Human Genetics, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229-3039, USA Tel +1 513 636 7290 Fax +1 513 636 2261 email [email protected] Abstract: Gaucher disease is a phenotypically heterogeneous autosomal recessively inherited lysosomal storage disease, resulting from deficient activity o...

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ژورنال

عنوان ژورنال: American Journal of Hematology

سال: 2010

ISSN: 0361-8609

DOI: 10.1002/ajh.21888