Research graph
References from Splenomegaly With Thrombocytopenia: A Case of the Rare and Obvious. Local targets link to admitted publications; unresolved targets remain external evidence.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Misdiagnosis of Niemann-Pick disease type C as Gaucher disease
10.1007/s10545-010-9214-3 · 2010 · External reference
The effect of preparation, storage, and shipping of dried blood spots on the activity of five lysosomal enzymes
10.1016/j.cca.2011.03.012 · 2011 · External reference
Validity of β-D-glucosidase activity measured in dried blood samples for the detection of potential Gaucher disease patients
10.1016/j.clinbiochem.2014.06.005 · 2014 · External reference
Patient-centered guidelines for the laboratory diagnosis of Gaucher disease type 1
10.1186/s13023-022-02573-6 · 2022 · External reference
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: results from a Delphi consensus
10.1016/j.ymgme.2021.12.009 · 2022 · External reference
Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis
10.1136/jcp.2007.049775 · 2008 · External reference
Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management
10.6065/apem.2016.21.1.7 · 2016 · External reference
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
10.1016/j.jacl.2021.11.015 · 2022 · External reference
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia
10.1002/ajh.23619 · 2014 · External reference
First report of Mediterranean stomatocytosis/macrothrombocytopenia in an Indian family: a diagnostic dilemma
10.1016/j.pathol.2017.06.010 · 2017 · External reference
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
10.1111/j.1365-2141.2005.05599.x · 2005 · External reference
Multicenter Sitosterolemia Study Group. Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia
10.1161/01.cir.0000116766.31036.03 · 2004 · External reference
