Results 341 to 350 of about 36,711 (394)

Inborn Errors of Metabolism

Pediatric Clinics of North America, 1967
William H. Crouch, Clara May Evanhoe
openaire   +6 more sources

Metabolite amyloids: a new paradigm for inborn error of metabolism disorders

Journal of Inherited Metabolic Disease, 2016
E. Gazit
semanticscholar   +1 more source

Inborn Errors of Metabolism [PDF]

, 1983
O’Brien has described the progress made in identifying lipid storage diseases as “enzymes to prevention.” (O’Brien, 1973). The lipid-storage diseases, called “lipidoses,” have been known since 1881 when Warren Tay, a British opthalmologist, together with Bernard Sachs, described a disease associated with the decline and finally arrest of cerebral ...
openaire   +1 more source

Epilepsy in inborn errors of metabolism

2013
Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances.
Nadia Bahi-Buisson, Olivier Dulac
openaire   +3 more sources

Inborn Errors of Biotin Metabolism

Archives of Dermatology, 1987
The important role of biotin in human physiology has been highlighted by the recognition of two newly discovered human inborn errors of the metabolism of biotin. The molecular defect in the neonatal-onset disease is in the enzyme holocarboxylase synthetase. The defect in the later infantile-onset disease is in the enzyme biotinidase.
openaire   +2 more sources

Inborn errors of metabolism

The American Journal of Medicine, 1950
Bonner Dm, Taggart Jv
openaire   +3 more sources

Metabolomics in cancer research and emerging applications in clinical oncology

Ca-A Cancer Journal for Clinicians, 2021
Daniel R Schmidt, David G Kirsch, Caroline A Lewis   +2 more
exaly  

Targeting cancer metabolism in the era of precision oncology

Nature Reviews Drug Discovery, 2022
Arantxa Gorostiaga, Zachary T Schug, Joseph M Salvino   +2 more
exaly  

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

NMR in Biomedicine, 2008
U. Engelke, J. Sass, R. Van Coster, E. Gerlo, H. Olbrich, S. Krywawych, J. Calvin, C. Hart, H. Omran, R. Wevers   +9 more
semanticscholar   +1 more source

Creatine replacement therapy in guanidineoacetate methyltransferase deficiency, a novel inborn error of metabolism

The Lancet, 1996
S. Stöckler, F. Hanefeld, J. Frahm
semanticscholar   +1 more source