Skip to main content

and
Your search also matched 7 preview-only Content is preview-only when you or your institution have not yet subscribed to it.

By making our abstracts and previews universally accessible we help you purchase only the content that is relevant to you.
results, e.g.

Amino Acid Profiling for the Diagnosis of Inborn Errors of Metabolism

Include preview-only content
  1. Article

    Open Access

    TNF-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 ...

    Joffrey De Larichaudy, Alessandra Zufferli, Filippo Serra in Skeletal Muscle (2012)

  2. Article

    Open Access

    Screening 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) ...

    David Cheillan, Marie Joncquel-Chevalier Curt in Orphanet Journal of Rare Diseases (2012)

  3. Article

    Open Access

    Screening 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...

    Caroline Demily, François Parant, David Cheillan in Annals of General Psychiatry (2017)

  4. Article

    Open Access

    Sphingolipid-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...

    Marion Orsini, Sébastien Chateauvieux, Jiyun Rhim in Cell Death & Differentiation (2019)