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A mostrar 1 - 20 resultados de 64 para a pesquisa '(( l narr computers a non ) OR ((( c daily compared less now ) OR ( j can companies can ngoc ))))', tempo de pesquisa: 1.46seg Refinar resultados
1
AB129. Osteogenesis imperfecta: clinical features and bisphosphonate treatment outcome
“...BACKGROUND AND OBJECTIVE: Osteogenesis imperfecta (OI) comprises a group of disorders principally...”
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AB070. Mutations of SRD5A2 in Vietnamese patients: phenotype and genotype
“... was positive. A novel homozygous missense mutation (c.659C>T; p.S220L) was identified in the SRD5A2 gene...”
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AB132. Neonatal diabetes in Wolcott-Rallison syndrome: a case report
“..., BE of −8 mmoL/L, blood glucose 42.46 mmoL/L, HbA1C 6.5%, total bilirubin 59.2 µmoL/L, direct bilirubin 29.7...”
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AB124. Mucolipidosis type II: clinical features and laboratories
“... to the lysosomes I. As a consequence the enzymes are secreted into the extracellular space, and high activities can...”
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AB102. Vietnamese patient with Tyrosinemia type 1: a case report
“... investigations revealed coagulation disorder with prothrombin time (PT) of 22%, hypoalbuminemia (21.5 g/L...”
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12
AB130. Pseudoaldosteronism due to mutation of SCNN1A gene: a case report
“... excretion of aldosterone ID-ISTD1 of 1,157.41 µg/L. Novel homozygous mutation (c.1668C > A; p.S556R) of SCNN...”
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AB100. Phenotypes of primary hyperlipidemia in a Vietnamese referral center
“... management of pediatric hyperlipidemia can have a significant impact upon the disease course and can prevent...”
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AB071. Mutations of AR gene in Vietnamese patients: genotype and phenotype
“... > T) was identified in a patient of 83 years of age. The novel missense mutation p.L705F (c.2113C > T) was identified...”
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AB125. Neonatal diabetes mellitus due to insulin gene mutation
“... with the feature of diabetic ketoacidosis with pH of 7.04±0.22; plasma glucose levels were 34.3±12.7 mmoL/L, HbA1C...”
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