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Meanings of homozygous familial hypobetalipoproteinemia in English

Portuguese
síndrome de bassen-kornzweig
Spanish
sindrome de bassen kornzweig

Human disease.

      Related terms
      síndrome de bassen-kornzweig
      Synonyms
      Examples for "abl"
      Examples for "abl"
      1
      We tested the effects of PD166326 on two of the clinically observed STI571-resistant Bcr-abl mutants.
      Pubmed
      2
      A fist-size tumor had been removed from the stomach of his patient 12 years earlier, but his doctors had not been abl(...)
      The Irish Times
      3
      Patients with an isolated ABL of a major epicardial vessel were included.
      Pubmed
      4
      However, the mechanisms by which c-Abl may influence B lymphopoiesis remain obscure.
      Pubmed
      5
      Previous studies on c-Abl-deficient mice have shown high post-natal mortality and lymphopenia.
      Pubmed
      1
      These findings suggest that overexpression of ORP150 in mice leads to abetalipoproteinemia with alteration of glucose and lipid metabolism.
      Pubmed
      2
      Using a genetic model for abetalipoproteinemia, we show that the uptake of labeled fatty acids into the circulation is dependent on lipoprotein production.
      Pubmed
      1
      We report on the unusual association of a malformation syndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia.
      Pubmed
      2
      Familial hypobetalipoproteinemia is a well-known dominantly inherited entity in which affected individuals usually are free of symptoms.
      Pubmed