Results 131 to 140 of about 198,582 (348)
Indications for pediatric liver transplantation [PDF]
, 1987 Two hundred fifty pediatric (
Andreas G. Tzakis +21 more
core +1 more source
A Minimal Power Model for Human Running Performance [PDF]
, 2018 Models for human running performances of various complexities and underlying principles have been proposed, often combining data from world record performances and bio-energetic facts of human physiology. Here we present a novel, minimal and universal model for human running performance that employs a relative metabolic power scale.
arxiv +1 more source
Parkinsonism and inborn errors of metabolism
Journal of Inherited Metabolic Disease, 2014 AbstractParkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic‐rigid syndrome” (HRS) is more accurate in children.
S. T. Duarte, Angels García-Cazorla
openaire +3 more sources
Impact of pregnancy on inborn errors of metabolism
Reviews in Endocrine & Metabolic Disorders, 2018 Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty.
G. Wilcox
semanticscholar +1 more source
Glia, EarlyView.CoPAN affects CoA biosynthesis and leads to iron dyshomeostasis. CoPAN d‐astrocytes show ferroptosis, iron accumulation, senescence, lipid peroxidation, mitochondrial damage and tubulin acetylation loss. Astrocytes recapitulate CoPAN disease. ABSTRACT COASY protein‐associated neurodegeneration (CoPAN) is a rare autosomal recessive disorder within the ...
Anna Cozzi +8 more
wiley +1 more source
Red herrings and rotten fish [PDF]
arXiv, 2002 A longstanding problem in biology has been the origin of pervasive quarter-power allometric scaling laws that relate many characteristics of organisms to body mass (M) across the entire spectrum of life from molecules and microbes to ecosystems and mammals. In particular, whole-organism metabolic rate, B=aM^b, where a is a taxon-dependent normalisation
arxiv
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Journal of Inborn Errors of Metabolism and Screening, 2017 Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD +7 more
doaj +1 more source
Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. [PDF]
, 2016 Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Angarita, Stephanie Ak +14 more
core +3 more sources
Reconciling metabolic scaling theory with observed variation in self-thinning trajectories: the relative roles of individual ontogeny, mode of competition, and resource limitation [PDF]
arXiv, 2011 This paper has been withdrawn by the author due to a crucial error in mathematical derivation and copyrights.
arxiv
Frontiers in Immunology, 2019 Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
Ana Argudo-Ramírez +15 more
doaj +1 more source