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125 results
  1. SMPD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/smpd1
    ... Genes and Diseases from OMIM SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1 Gene and Variant Databases NCBI Gene ClinVar References Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, ... BJ. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and ...
  2. 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 ...
  3. LIPA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/lipa
    ... of Genes and Diseases from OMIM LIPASE A, LYSOSOMAL ACID; LIPA Gene and Variant Databases NCBI Gene ClinVar References Reiner ...
  4. 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 ...
  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; acid ... Catalog of Genes and Diseases from OMIM GLUCOSIDASE, ALPHA, ACID; GAA ...
  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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