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  1. Lysosomal acid lipase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency
    ... lysosomal acid lipase deficiency. Learn more about the gene associated with Lysosomal acid lipase deficiency LIPA Inheritance This condition is inherited ...
  2. Lysosomal Acid Lipase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK305870
    ... 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. SMPD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/smpd1
    ... Genes and Diseases from OMIM SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL Research Resources ClinVar NCBI Gene References Hollak CE, de Sonnaville ES, Cassiman D, ...
  4. LIPA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/lipa
    ... 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. MAN2B1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/man2b1
    ... 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. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></gene-summary><gene-summary ><gene-symbol >LIPA</gene-symbol><name >lipase A, lysosomal acid type</name><ghr-page >https://medlineplus.gov/genetics/ ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... 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. Gaucher Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1269
    ... 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. GAA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gaa
    ... glucosidase Amyloglucosidase Glucoamylase glucosidase, alpha; acid glucosidase, alpha; ... Catalog of Genes and Diseases from OMIM GLUCOSIDASE, ALPHA, ACID Research ...
  10. Free Sialic Acid Storage Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1470
    ... 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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