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Results 1 - 10 of 12 for Glycosphingolipid
  1. HEXA gene 
    The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Specifically, the protein produced from the HEXA ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics
  2. GLA gene 
    The GLA gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that act as ...
    https://medlineplus.gov/genetics/gene/gla - Genetics
  3. GM2 activator deficiency 
    GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant) is a rare inherited disorder that causes progressive brain injury. Most individuals ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics
  4. ST3GAL5 gene 
    The ST3GAL5 gene provides instructions for making an enzyme called GM3 synthase. This enzyme carries out a chemical reaction that is the first step in the ...
    https://medlineplus.gov/genetics/gene/st3gal5 - Genetics
  5. Spinal muscular atrophy with progressive myoclonic epilepsy 
    Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that begins in childhood. SMA-PME causes muscle weakness and ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
  6. Fabry disease 
    Fabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, ...
    https://medlineplus.gov/genetics/condition/fabry-disease - Genetics
  7. GP1BB gene 
    ... the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain. J Biol Chem. 2015 Sep ...
    https://medlineplus.gov/genetics/gene/gp1bb - Genetics
  8. GP9 gene 
    ... the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain. J Biol Chem. 2015 Sep ...
    https://medlineplus.gov/genetics/gene/gp9 - Genetics
  9. ARSA gene 
    ... on PubMed Essentials of Glycobiology (first edition, 1999): Glycosphingolipid Degradation Gieselmann V, Krageloh-Mann I. Metachromatic leukodystrophy-- ...
    https://medlineplus.gov/genetics/gene/arsa - Genetics
  10. PSAP gene 
    ... on PubMed Essentials of Glycobiology (first edition, 1999): Glycosphingolipid Degradation Grossi S, Regis S, Rosano C, Corsolini ...
    https://medlineplus.gov/genetics/gene/psap - Genetics
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