Results 101 to 110 of about 148,305 (130)

Orthopaedic Manifestations of Inborn Errors of Metabolism.

JBJS Reviews, 2021
» Inborn errors of metabolism are disorders of carbohydrate, amino acid, organic acid, or purine and pyrimidine metabolism; disorders of fatty acid oxidation; disorders of metal metabolism; and lysosomal storage defects that can cause metabolic ...
Niyathi Prasad, A. Hamosh, P. Sponseller
semanticscholar   +1 more source

Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism

Clinical Biochemistry, 2005
To set up a novel simple, sensitive, and reliable ion-pairing HPLC method for the synchronous separation of several purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis and screening of inborn errors of metabolism (IEM).The separation was set up using a Hypersil C-18, 5-microm particle size, 250 x 4.6 mm ...
TAVAZZI B, LAZZARINO, Giuseppe, LEONE P, AMORINI AM, BELLIA F, JANSON CG, DI PIETRO V, CECCARELLI L, DONZELLI S, FRANCIS JS, GIARDINA B.   +10 more
openaire   +5 more sources

Recent updates on purine and pyrimidine metabolism in physiological and pathological settings

Nucleosides, Nucleotides & Nucleic Acids, 2020
SUMMARY In June 2019, the Purine and Pyrimidine Society (PPS) organized the 18th biennial symposium on Purine and Pyrimidine Metabolism at the International Agency for Research on Cancer in Lyon, France.
L. Jordheim, G. Peters
semanticscholar   +1 more source

Biochemical profiling of inborn errors of purine and pyrimidine metabolism by high-performance liquid chromatography – a strategy to improve childhood mortality and morbidity in Malaysian children

, 2012
Background . The epidemiology of inborn errors of purine and pyrimidine (PnP) metabolism in developing countries is unknown. Facilities for the analysis of PnP metabolites in Malaysia are currently lacking owing to limited resources and expertise in this
C. B. Chin, T. M. Keong, Z. M. Yunus
semanticscholar   +1 more source

The high performance liquid chromatography of enzyme systems relating to purine and pyrimidine metabolism: an overview.

Biomedical chromotography, 1990
Purines and pyrimidines are now routinely separated by HPLC. By careful selection of chromatographic conditions which match the expected changes in hydrophobicity and/or ionic nature of the substrate and products most enzymes of the purine and pyrimidine
D. Perrett, H. Simmonds
semanticscholar   +1 more source

Neurological presentations of inborn errors of purine and pyrimidine metabolism.

European journal of paediatric neurology, 2023
M. Nassogne, Sandrine Marie, J. Dewulf
semanticscholar   +1 more source

Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.

Molecular Genetics and Metabolism, 2022
A. Jurecka, A. Tylki-Szymańska
semanticscholar   +1 more source

Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.

The Pediatric clinics of North America, 2018
Evgenia Sklirou, U. Lichter-Konecki
semanticscholar   +1 more source

Inborn errors of purine and pyrimidine metabolism

Journal of Inherited Metabolic Disease, 2009
A. Jurecka
semanticscholar   +1 more source

Inborn errors of purine and pyrimidine metabolism.

Clinics of Perinatology, 1976
Irving H. Fox
semanticscholar   +1 more source