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Hepatic metabolites and uric excretion in fructose -1,6- diphosphatase deficiency
dc.creator | Velázquez, A. | |
dc.creator | DeVivo, D. C. | |
dc.creator | Costin, C. | |
dc.creator | Shaw, K. N. F. | |
dc.creator | de Céspedes Montealegre, Carlos | |
dc.date.accessioned | 2017-05-19T14:14:04Z | |
dc.date.available | 2017-05-19T14:14:04Z | |
dc.date.issued | 1988 | |
dc.identifier.citation | http://link.springer.com/article/10.1007/BF01800375 | |
dc.identifier.issn | 0141-8955 | |
dc.identifier.issn | 1573-2665 | |
dc.identifier.uri | https://hdl.handle.net/10669/29651 | |
dc.description | Reporte de caso | es_ES |
dc.description.abstract | There have been a small number of patients reported with inherited disorders of gluconeogenesis. We studied a female patient with fructose-1,6-diphosphatase (FDPase; EC 3.1.3.11) deficiency (McKusick 22970), born of consanguineous parents (inbreeding coefficient 1/32). Since 4 months of age, she presented with many episodes of ketosis, lactic acidosis and hypoglycaemia, which, on two occasions, were accompanied by seizures. Blood uric acid was abnormally high (0.485 mmol L-1) but below normal in urine (1.85 mmol g creatinine). | es_ES |
dc.description.sponsorship | Universidad de Costa Rica//UCR/Costa Rica | es_ES |
dc.language.iso | en_US | es_ES |
dc.source | Journal of Inherited Metabolic Disease; Volumen 11, Número 3. 1988 | es_ES |
dc.subject | Glucose | es_ES |
dc.subject | Case studies | es_ES |
dc.subject | Hypoglycaemia | es_ES |
dc.subject | Gluconeogenesi | es_ES |
dc.title | Hepatic metabolites and uric excretion in fructose -1,6- diphosphatase deficiency | es_ES |
dc.type | informe | |
dc.identifier.doi | doi:10.1007/BF01800375 | |
dc.description.procedence | UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA) | es_ES |
dc.identifier.pmid | 3148073 |