Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis
MT Vanier - Archives de pediatrie: organe officiel de la Societe …, 2010 - europepmc.org
Archives de pediatrie: organe officiel de la Societe francaise de pediatrie, 2010•europepmc.org
The main historical steps leading to the concept of Niemann-Pick type C disease as an
intracellular lipid and more specifically a cholesterol transport disorder are summarized; the
current stage of knowledge and research hypotheses regarding the function of the NPC1
and NPC2 proteins and pathogeny of the cerebral dysfunction are briefly commented. The
various approaches for laboratory diagnosis of patients are finally discussed.
intracellular lipid and more specifically a cholesterol transport disorder are summarized; the
current stage of knowledge and research hypotheses regarding the function of the NPC1
and NPC2 proteins and pathogeny of the cerebral dysfunction are briefly commented. The
various approaches for laboratory diagnosis of patients are finally discussed.
The main historical steps leading to the concept of Niemann-Pick type C disease as an intracellular lipid and more specifically a cholesterol transport disorder are summarized; the current stage of knowledge and research hypotheses regarding the function of the NPC1 and NPC2 proteins and pathogeny of the cerebral dysfunction are briefly commented. The various approaches for laboratory diagnosis of patients are finally discussed.
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