Results 81 to 90 of about 19,497 (183)

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

Genetics and Molecular Biology, 2019
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner, Angela Sitta, Aline Kayser, Marion Deon, Ana C. Groehs, Daniella M. Coelho, Carmen R. Vargas   +6 more
doaj   +1 more source

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +2 more sources

Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting [PDF]

, 2014
Disorders of the urea cycle are secondary to a defect in the system that converts ammonia into urea, resulting in accumulation of ammonia and other products. This results in encephalopathy, coma, and death if not recognized and treated rapidly.
Fabiano Pinheiro da Silva, Marcel Cerqueira Machado   +1 more
core   +1 more source

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, R F, Rosenblatt, D S, Stucki, M, Suormala, T   +7 more
core   +1 more source

Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening

, 2008
With recent advances in laboratory technology with tandem mass spectrometry (MS/MS), the number of infants identified with a fatty acid oxidation disorder has increased dramatically.
Banta-Wright, Sandra A., Bennett, Michael J., Shelton, Kathleen C.   +2 more
core   +1 more source

Amino Acids Profiling for the Diagnosis of Metabolic Disorders [PDF]

, 2019
Inborn errors of metabolism (IEM) represent a group of inherited diseases in which genetic defect leads to the block on a metabolic pathway, resulting in a single enzyme dysfunction.
Sandlers, Yana
core   +2 more sources

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq

Oman Medical Journal, 2019
Objectives: We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types. Methods: We conducted a cross-sectional study in Misan, Iraq, over a period of one year.
Hassan A. Altimimi, Hussein F. Aljawadi, Esraa A. Ali   +2 more
doaj   +1 more source

Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach

Heliyon, 2021
Metachromatic leukodystrophy (MLD) is a human neurodegenerative disorder characterized by progressive damage on the myelin band in the nervous system. MLD is caused by the impaired function of the lysosomal enzyme Arylsulphatase A (ARSA).
Olga Y. Echeverri-Peña, Diego A. Salazar-Barreto, Alexander Rodríguez-Lopez, Janneth González, Carlos J. Alméciga-Díaz, Cristian H. Verano-Guevara, Luis A. Barrera   +6 more
doaj  

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

Journal of Inherited Metabolic Disease, 2018
Since organic acid analysis in urine with gaschromatography-mass spectrometry (GC-MS) is a time-consuming technique, we developed a new liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-QTOF/MS) method to replace the classical ...

semanticscholar   +1 more source