Lysosomal acid lipase deficiency (LAL D) is an orphan disease connected with accumulation of cholesterol estersin different organs, interest to this disease increased due to the possibility of enzyme replacement therapy. The article presents a clinical case of verification of LAL D in a child 5 years of age
Lysosomal acid lipase (LAL) is responsible for cholesteryl ester hydrolysis in lysosomes. Aim of the...
Lysosomal storage diseases (LSDs) are a group of heterogeneous and multisystemic disorders caused by...
Although rare, the presentation of the genetic disease spectrum associated with lysosomal acid lipas...
Georg Strebinger, Elena Müller, Alexandra Feldman, Elmar AignerFirst Department of Medicine, Pa...
To characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children ...
Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl ester...
Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significan...
Background and aims Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive di...
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused b...
Kim Su,1 Emma Donaldson,1 Reena Sharma2 1Division of Gastroenterology/Hepatology, 2The Mark Holland ...
Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed ...
Lysosomal acid lipase (LAL) is responsible for the hydrolysis of cholesteryl esters and triglyceride...
Introduction: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and trig...
AbstractLysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage dis...
WOS: 000406928300002Lysosomal lipid storage disease, occurs as a result of enzyme deficiency or defe...
Lysosomal acid lipase (LAL) is responsible for cholesteryl ester hydrolysis in lysosomes. Aim of the...
Lysosomal storage diseases (LSDs) are a group of heterogeneous and multisystemic disorders caused by...
Although rare, the presentation of the genetic disease spectrum associated with lysosomal acid lipas...
Georg Strebinger, Elena Müller, Alexandra Feldman, Elmar AignerFirst Department of Medicine, Pa...
To characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children ...
Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl ester...
Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significan...
Background and aims Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive di...
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused b...
Kim Su,1 Emma Donaldson,1 Reena Sharma2 1Division of Gastroenterology/Hepatology, 2The Mark Holland ...
Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed ...
Lysosomal acid lipase (LAL) is responsible for the hydrolysis of cholesteryl esters and triglyceride...
Introduction: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and trig...
AbstractLysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage dis...
WOS: 000406928300002Lysosomal lipid storage disease, occurs as a result of enzyme deficiency or defe...
Lysosomal acid lipase (LAL) is responsible for cholesteryl ester hydrolysis in lysosomes. Aim of the...
Lysosomal storage diseases (LSDs) are a group of heterogeneous and multisystemic disorders caused by...
Although rare, the presentation of the genetic disease spectrum associated with lysosomal acid lipas...