Pages that link to "Q51958281"

The following pages link to The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease (Q51958281):

Displaying 12 items.

• Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease (Q33904453) (← links)
• Gaucher disease: complexity in a "simple" disorder (Q35908938) (← links)
• Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model (Q36302109) (← links)
• Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). (Q37109338) (← links)
• The enigma of the E326K mutation in acid β-glucocerebrosidase (Q37915023) (← links)
• Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits (Q39357071) (← links)
• Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. (Q44321519) (← links)
• Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies. (Q54781184) (← links)
• The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru (Q64779716) (← links)
• Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships (Q73489118) (← links)
• Identification of a novel mutation, I403T, in Cuban type 1 Gaucher disease (Q83630763) (← links)
• Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations (Q90518359) (← links)