Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease
G Perucca, BP Soares, S Staglianò, J Davison… - Neuroradiology, 2018 - Springer
Gaucher disease (GD) represents the most common lysosomal storage defect. It is classified
into three phenotypes: type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 …
into three phenotypes: type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 …
[PDF][PDF] The effect of the enzyme replacement therapy on the kidney function tests and serum electrolyte levels in children with Gaucher disease. Iraqi JMS. 2018; 16 (2) …
HA Abdulhussein, FH Al-Obaidi, HS Arif - IJMS - iasj.net
Background Gaucher disease (GD) is an inherited autosomal recessive disease. It is most
common in the Ashkenazi Jewish population. Many biomarkers might be involved in the …
common in the Ashkenazi Jewish population. Many biomarkers might be involved in the …
[PDF][PDF] Mutational analysis in Gaucher disease: implications in genetic counseling and management
I Panigrahi, J Kalra, P Goyad, P Khetarpal… - J Genet Disor Genet …, 2016 - researchgate.net
Gaucher disease (GD) is the most common LSD worldwide. The disease is caused due to
mutations in β-glucocerobrosidase (GBA) gene located on chromosome 1. The mutations …
mutations in β-glucocerobrosidase (GBA) gene located on chromosome 1. The mutations …
[HTML][HTML] Diagnostic Conundrum of Progressive Pallor and Hepatosplenomegaly in a Toddler
P Balakrishnan, TA Babu… - Journal of Applied …, 2021 - journals.lww.com
Progressive pallor with hepatosplenomegaly is an alarming constellation of signs in children
indicating a serious, ongoing disease process which has to be investigated for. Anemia and …
indicating a serious, ongoing disease process which has to be investigated for. Anemia and …
The Effect of The Enzyme Replacement Therapy on The Kidney Function Tests and Serum Electrolyte Levels in Children with Gaucher Disease.
HA Abdulhussein, FH Al-Obaidi… - Iraqi Journal of Medical …, 2018 - search.ebscohost.com
Background: Gaucher disease (GD) is an inherited autosomal recessive disease. It is most
common in the Ashkenazi Jewish population. Many biomarkers might be involved in the …
common in the Ashkenazi Jewish population. Many biomarkers might be involved in the …