scholarly journals Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease

2017 ◽  
pp. 7-12 ◽  
Author(s):  
Carla Ruiz-Andrés ◽  
◽  
Elena Sellés ◽  
Angela Arias ◽  
Laura Gort
Keyword(s):  
High Frequency ◽  
The Novel ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

New Diagnostic Method for Lysosomal Acid Lipase Deficiency and the Need to Recognize Its Manifestation in Infants (Wolman Disease)

2015 ◽  
Vol 60 (3) ◽  
pp. e22-e24 ◽  
Author(s):  
Mariana Gómez-Nájera ◽  
Hilario Barajas-Medina ◽  
Mayra C. Gallegos-Rivas ◽  
Pedro Mendez-Sashida ◽  
Kendrick A. Goss ◽  
...  
Keyword(s):  
Diagnostic Method ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

Plasma oxysterols as a putative biomarker for infantile onset lysosomal acid lipase deficiency (Wolman disease)

2017 ◽  
Vol 120 (1-2) ◽  
pp. S52-S53 ◽  
Author(s):  
Arunabha Ghosh ◽  
James Cooper ◽  
Heather Church ◽  
Simon A. Jones ◽  
HoiYee Wu
Keyword(s):  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency

2019 ◽  
Vol 127 (3) ◽  
pp. 212-215 ◽  
Author(s):  
I.O. Bychkov ◽  
E.A. Kamenets ◽  
A.Yu. Filatova ◽  
M.Yu. Skoblov ◽  
S.V. Mikhaylova ◽  
...  
Keyword(s):  
The Novel ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency ◽  
Synonymous Variant

Clinical effect of sebelipase alfa on survival and growth in infants with lysosomal acid lipase deficiency (Wolman disease)

2014 ◽  
Vol 111 (2) ◽  
pp. S108 ◽  
Author(s):  
Vassili Valayannopoulos ◽  
Dominique Plantaz ◽  
Roshni Vara ◽  
Stephen Eckert ◽  
Radhika Tripuraneni ◽  
...  
Keyword(s):  
Clinical Effect ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency ◽  
Survival And Growth
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