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Platelet Membrane Glycoprofiling in a PMM2-CDG Patient
(Latin American Society Inborn Errors and Neonatal Screening, 2021-08)
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, ...
004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations
Introduction: Mitochondrial leukodystrophy due to complex I deficiency is an entity with high genetic heterogeneity, the mutations of the gene NDUFV1 being one of the causes of this disease. It is an autosomal recessive ...
Platelet Membrane Glycoprofiling in a PMM2-CDG Patien
(Latin American Society Inborn Errors and Neonatal Screening. Instituto Genética para Todos, 2021-07)
Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, ...
Male hypogonadism
(McGraw-Hill, 2017)
Normal testicular function is necessary for external genital development and function, diverse psychosexual dimorphic features, normal muscle, and bone structure. Depending on age and developmental stage, underlying defects ...
Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifl uoromethylbenzoyl)- 1,3-ciclohexanedione (NTBC) Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-
(2012)
Background: Tyrosinemia type I is an inborn error of metabolism due to defi ciency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation ...
Análise quantitativa de aminoácidos por HPLC em sangue e urina coletados em papel-filtro no período neonatal: validação de método, estabelecimento de valores de referência e aplicação prática em erros inatos do metabolismo
(Universidade Federal de Minas GeraisUFMG, 2017-06-27)
INTRODUCTION: Inborn errors of metabolism constitute a diverse group of individually rare diseases, but collectively correspond to 10% of the genetic diseases already described. They occur by a specific enzymatic defect ...