Results 201 to 210 of about 26,855 (306)
The quality of life of people with rare inborn errors of metabolism and their caregivers [PDF]
Ewa Witalis +5 more
openalex +1 more source
Abstract This essay aims to reveal the conceptual unity of an ensemble of concepts of organic, animal, and anthropological life articulated by the young Karl Marx between 1842 and 1844. To lay the groundwork for my analysis, I begin with Marx's general account of “life as activity.” I argue that Marx articulates a hylomorphic theory of organic form in ...
Christopher Shambaugh
wiley +1 more source
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation [PDF]
Ángela Sempere +11 more
openalex +1 more source
Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo +15 more
wiley +1 more source
CLINICAL APPROACH TO THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM (IEM)
Andrei Zamfirescu
openalex +2 more sources
Abstract Objective Timely diagnosis and effective treatment of Lennox–Gastaut syndrome (LGS) improve prognosis and lower health care costs, but the transition from infantile epileptic spasms syndrome (IESS) to LGS is highly variable and insidious. Objective biomarkers are needed to monitor this progression and guide clinical decision‐making. Methods We
Blanca Romero Milà +11 more
wiley +1 more source
High serum cholesterol is linked to colorectal cancer liver metastases (CRCLM) subtypes with poor survival (replacement pattern). Levels of cholesterol under 4 mmol·L−1 correlated with better survival and a desmoplastic pattern subtype. Furthermore, in vivo PCSK9 inhibitor evolocumab, which lowers cholesterol, reduced liver metastases.
Amatzia Gantz +9 more
wiley +1 more source
The Impact of Recombinant DNA on Inborn Errors of Metabolism
Stephen Cederbaum
openalex +1 more source
Tests for Suspected Inborn Errors of Metabolism [PDF]
J Gordon Millichap
openalex +1 more source

