Published in J Inherit Metab Dis on January 19, 2010
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Deterioration of the auditory brainstem response in children with type 3 Gaucher disease. Neurology (2004) 0.86
Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur J Pediatr (2004) 0.85
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A dose-escalation phase IIa study of 2,2-dimethylbutyrate (HQK-1001), an oral fetal globin inducer, in sickle cell disease. Am J Hematol (2013) 0.84
Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases. J Inherit Metab Dis (2011) 0.82
Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease. Blood Cells Mol Dis (2010) 0.82
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Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease. J Inherit Metab Dis (2011) 0.80
Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry. Mol Genet Metab (2009) 0.80
The effect of reducing repetition time TR on the measurement of liver R2 for the purpose of measuring liver iron concentration. Magn Reson Med (2010) 0.79
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Sustained improvements in myocardial T2* over 2 years in severely iron-overloaded patients with beta thalassemia major treated with deferasirox or deferoxamine. Am J Hematol (2014) 0.79
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Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management? Pediatr Radiol (2003) 0.75
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