Associated Papers
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.
Potter JE et al.
Orphanet Journal of Rare Diseases, 2021
Genes Potentially Associated with Familial Hypercholesterolemia.
Mikhailova S et al.
Biomolecules, 2019
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Del Angel G et al.
Human Mutation, 2019
31180157 (PubMed )
Supplement: HUMU-40-2007-s001.xlsx › Supplementary_Table_1
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
Bernstein DL et al.
Journal of Hepatology, 2013
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