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  1. ... lysosomal acid lipase deficiency. Learn more about the gene associated with Lysosomal acid lipase deficiency LIPA Inheritance This condition is inherited ...
  2. ... region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesterol ester storage disease. ... splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester ...
  3. ... Genes and Diseases from OMIM SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL Research Resources ClinVar NCBI Gene References Hollak CE, de Sonnaville ES, Cassiman D, ...
  4. ... for removal. Health Conditions Related to Genetic Changes Lysosomal acid lipase deficiency Approximately 60 mutations in the LIPA gene have been found to cause lysosomal acid lipase ...
  5. ... About This Health Condition Other Names for This Gene LAMAN lysosomal acid alpha-mannosidase MA2B1_HUMAN MANB mannosidase, alpha B, lysosomal mannosidase, alpha, class 2B, member 1 Additional Information & Resources Tests ... Catalog of Genes and Diseases from OMIM MANNOSIDASE, ALPHA, CLASS 2B, ...
  6. ... published></gene-summary><gene-summary ><gene-symbol >LIPA</gene-symbol><name >lipase A, lysosomal acid type</name><ghr-page >https://medlineplus.gov/genetics/ ...
  7. ... limk1</url></topic><topic ><title >LIPA: lipase A, lysosomal acid type</title><url >https://medlineplus.gov/genetics/gene/lipa</url></topic><topic ><title >LIPC: lipase C, ...
  8. ... Disease: Genes and Databases View in own window Gene Chromosome Locus Protein Locus-Specific Databases HGMD ClinVar GBA 1q22 Lysosomal acid glucosylceramidase PD mutation database (GBA) CCHMC - Human Genetics ...
  9. ... glucosidase Amyloglucosidase Glucoamylase glucosidase, alpha; acid glucosidase, alpha; ... Catalog of Genes and Diseases from OMIM GLUCOSIDASE, ALPHA, ACID Research ...
  10. ... MEMBER 5; SLC17A5 604369 SALLA DISEASE; SD The gene product of SLC17A5 , sialin, is an integral lysosomal membrane transporter that exports free sialic acid from lysosomes [ Mancini et al 1991 ]. Deficient or ...
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