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Results 1 - 10 of 27 for Compartment syndrome
  1. Bowen-Conradi syndrome 
    ... new proteins. Ribosomes are assembled in a cell compartment called the nucleolus.The particular EMG1 gene mutation known to cause Bowen-Conradi syndrome is thought to make the protein unstable, resulting ...
    https://medlineplus.gov/genetics/condition/bowen-conradi-syndrome - Genetics
  2. Action myoclonus–renal failure syndrome 
    ... compartments that digest and recycle materials. In these compartments, ... associated with AMRF syndrome lead to production of an altered LIMP-2 ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  3. Hermansky-Pudlak syndrome 
    ... related organelles (LROs). LROs are very similar to compartments within the ... with Hermansky-Pudlak syndrome prevent the formation of LROs or impair the ...
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  4. Christianson syndrome 
    ... people in other parts of the world. ... endosomes, which are compartments within cells that recycle proteins and other materials. ...
    https://medlineplus.gov/genetics/condition/christianson-syndrome - Genetics
  5. RAB18 deficiency 
    ... on, RAB18 regulates the movement of substances between compartments in cells and the storage and release of fats ... RAB18 ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  6. Microcephaly-capillary malformation syndrome 
    ... been diagnosed with the disorder. ... surface to specialized cell compartments that break down (degrade) or recycle them. This ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  7. Hereditary folate malabsorption 
    ... proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and ... into systemic compartments and tissues. Expert Rev Mol Med. 2009 Jan ...
    https://medlineplus.gov/.../hereditary-folate-malabsorption - Genetics
  8. Mucopolysaccharidosis type I 
    ... within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that ... Hurler syndrome Hurler-Scheie syndrome IDUA deficiency MPS I MPS ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-i - Genetics
  9. Cerebro-facio-thoracic dysplasia 
    ... balance of calcium ions in cells and cell compartments is important for the development and function of ... Genetic Testing ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  10. Mucopolysaccharidosis type VII 
    ... within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle ... type 7 Mucopolysaccharidosis type ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vii - Genetics
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