Inborn Errors Of Metabolism
Mostrando 1-12 de 61 artigos, teses e dissertações.
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1. Development and application of a test mixture for untargeted liquid chromatography-mass spectrometry analysis of urine samples
Metabolic profiling of complex biological matrices based on liquid chromatography-mass spectrometry (LC-MS) allows detecting a wide range of metabolites with distinct concentrations and physicochemical properties. Given the complexity of samples and the necessity of a comprehensive approach in untargeted metabolomics, quality control strategies are mandatory
Química Nova. Publicado em: 2022
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2. Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?
Abstract Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications. The three most frequent causes are classical homocystinuria [deficiency of cystathionine beta-synthase (CBS)], m
J. inborn errors metab. screen.. Publicado em: 05/12/2019
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3. Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns
Abstract Inborn errors of intermediary metabolism (IEiM) are complex diseases with high clinical heterogeneity, and some patients who have severe enzyme deficiencies or are subjected to stress (catabolism/infections) actually decompensate in the neonatal period. In this study, we performed metabolic tests on 2025 newborns in Mexico admitted to 35 neonatal in
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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4. Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America
Abstract Mucopolysaccharidoses (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Clinical observations suggest a health-related impairment in quality of life in patients with MPS. Professionals with extensive experience in the care of patients with inb
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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5. Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil
Abstract In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil. Consanguinity was confirmed by 56 (28%) couples, with similar values among groups of intermediar
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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6. Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
Abstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA r
Genet. Mol. Biol.. Publicado em: 10/06/2019
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7. Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital
Abstract Newborn screening for the detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to th
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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8. Technological Journey From Colorimetric to Tandem Mass Spectrometric Measurements in the Diagnostic Investigation for Phenylketonuria
Abstract Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was chosen as the model system to describe how advancements in laboratory technology improved laboratory performance. These advancements have made NBS programs better and have improved the health outcomes of the affected newborn through improvements in accurate ear
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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9. Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center
Abstract 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 metabolism. Since a considerable number of such disorders are potentially treatable when diagnosed at a
Genet. Mol. Biol.. Publicado em: 11/04/2019
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10. Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories
Abstract Major progress occurred in understanding inborn errors of ketone body transport and metabolism between the International Congresses on Inborn Errors of Metabolism in Barcelona (2013) and Rio de Janeiro (2017). These conditions impair either ketogenesis (presenting as episodes of hypoketotic hypoglycemia) or ketolysis (presenting as ketoacidotic epis
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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11. Micronutrients: Speculation on Inborn Errors, Nutrigenomics, Evolution, the Microbiome, and Nutritional Immunity
Abstract Many micronutrients or cofactors derived from micronutrients are highly reactive, hence their role in catalysis of reactions by enzymes. The concentration of cofactors has to be kept low to avoid unwanted reactions while allowing them to bind to the (apo)enzymes that need them. A new disorder causing B6-responsive epilepsy (proline synthetase cotran
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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12. Quality of Life and Associated Factors in Japanese Children With Inborn Errors of Metabolism and Their Families
Abstract To reveal the associated factors of quality of life (QoL) in children with inborn errors of metabolism (IEM), their siblings, and their primary caregivers and partners, we conducted an anonymous questionnaire survey in Japan. Descriptive, correlation, and multiple regression analyses were performed. Fifty-six children with IEM, 35 siblings, 143 prim
J. inborn errors metab. screen.. Publicado em: 28/02/2019