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Campo DC | Valor | Idioma |
---|---|---|
dc.contributor.author | Steiner, Carlos Eduardo | - |
dc.contributor.author | Acosta, Angelina Xavier | - |
dc.contributor.author | Guerreiro, Marilisa Mantovani | - |
dc.contributor.author | Faria, Antonia Paula Marques de | - |
dc.creator | Steiner, Carlos Eduardo | - |
dc.creator | Acosta, Angelina Xavier | - |
dc.creator | Guerreiro, Marilisa Mantovani | - |
dc.creator | Faria, Antonia Paula Marques de | - |
dc.date.accessioned | 2012-05-11T14:13:10Z | - |
dc.date.available | 2012-05-11T14:13:10Z | - |
dc.date.issued | 2007-06 | - |
dc.identifier.issn | 0004-282X | - |
dc.identifier.uri | http://www.repositorio.ufba.br/ri/handle/ri/5841 | - |
dc.description | p.202-205 | pt_BR |
dc.description.abstract | We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients, whereas variable neurological signs such as seizures, spasticity, ataxia, aggressivity, and hyperactivity were individually found. Homozygosity for the IVS10nt11g/a (IVS10nt546) was found in all. This is the first report of molecular findings in subjects with PKU also presenting with autistic features. The authors discuss if this mutation is particularly involved in the association of autistic symptoms in untreated PKU individuals. | pt_BR |
dc.language.iso | en | pt_BR |
dc.publisher | Associação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange | pt_BR |
dc.source | http://dx.doi.org/10.1590/S0004-282X2007000200003 | pt_BR |
dc.subject | Autism | pt_BR |
dc.subject | Natural history | pt_BR |
dc.subject | Pervasive developmental disorders | pt_BR |
dc.subject | Phenylalanine hydroxilase | pt_BR |
dc.subject | Phenylketonuria | pt_BR |
dc.title | Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior | pt_BR |
dc.title.alternative | Arq Neuropsiquiatr | pt_BR |
dc.type | Artigo de Periódico | pt_BR |
dc.description.localpub | São Paulo | pt_BR |
dc.identifier.number | v. 65, n. 2-A | pt_BR |
Aparece nas coleções: | Artigo Publicado em Periódico (Faculdade de Medicina) |
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