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Article
Open AccessTNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism
Muscle atrophy associated with various pathophysiological conditions represents a major health problem, because of its contribution to the deterioration of patient status and its effect on mortality. Although ...
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Article
Open AccessScreening for primary creatine deficiencies in French patients with unexplained neurological symptoms
A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) ...
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Article
Open AccessScreening of Wilson’s disease in a psychiatric population: difficulties and pitfalls. A preliminary study
Wilson’s disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene ATP7B affecting the liver and nervous system. About 30% of patients with WD may initial...
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Article
Open AccessSphingolipid-mediated inflammatory signaling leading to autophagy inhibition converts erythropoiesis to myelopoiesis in human hematopoietic stem/progenitor cells
Elevated levels of the pro-inflammatory cytokine tumor necrosis factor-α (TNFα) inhibit erythropoiesis and cause anemia in patients with cancer and chronic inflammatory diseases. TNFα is also a potent activato...