Navegação Ciências da Saúde por Assunto "Metabolic disease"
Resultados 1-2 de 2
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Anthropometric and metabolic profile of school children born full term or preterm : a cross sectional study
(2021) [Artigo de periódico]Facing an increase in childhood obesity, it is necessary to investigate the metabolic profile of school-aged children in order to identify earlier lipid and glycemic changes. The objective in this study was to establish ... -
Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry
(2019) [Artigo de periódico]Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resultingfrom pathogenic variants in theα-L-iduronidase (IDUA) gene. Clinical phenotypesrange from severe (Hurler syndrome) to attenuated ...