Encontrados 15 documentos, a visualizar página 1 de 2
Síndroma Smith-Lemli-Opitz. Defeito Metabólico na Biossíntese do Colesterol. A ...
R. Mota, Céu; Martins, E.; Fortuna, A.; Carvalho, C.; Proneça, E.; Matos, A.; Pinho, O.; Barbot, C.; Lima, M. R.O síndroma de Smith-Lemli-Opitz (SLO) é uma doença genética autossómica recessiva caracterizada por múltiplas anomalias congénitas sendo as mais frequentes o atraso de crescimento e desenvolvimento, microcefalia, anomalias faciais, anomalias genitais e sindactilia e ou polidactilia associadas a outras anomalias menos frequentes. Não há nenhuma anomalia congénita patognomónica nem obrigatória para o diagnóstico ...
Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia
Santos-Silva, E.; Cardoso, M.; Vilarinho, L.; Medina, M.; Barbot, C.; Martins, E.Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. The onset of the disease is usually in childhood, and clinical manifestations include progressive spastic paraparesis and mental retardation. Liver involvement is less frequent and usually not as severe as observed in other UCDs. For this rea...
Liver transplantation prevents progressive neurological impairment in argininemia
Silva, E.S.; Cardoso, M.L.; Vilarinho, L.; Medina, M.; Barbot, C.; Martins, E.Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. The onset of the disease is usually in childhood, and clinical manifestations include progressive spastic paraparesis and mental retardation. Liver involvement is less frequent and usually not as severe as observed in other UCDs. For this rea...
Genes, crianças e pediatras: defeito congénito da N-glicosilação tipo Ia
Nascimento, P.; Martins, M.; Pereira, A.; Barbot, C.; Martins, E.
Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial...
PEREIRA, C.; NOGUEIRA, C.; BARBOT, C.; TESSA, A.; SOARES, C.; FATTORI, F.; GUIMARÃES, A.; SANTORELLI, F.M.; VILARINHO, L.Biochem Biophys Res Commun. 2007 Mar 23;354(4):937-41. Epub 2007 Jan 23. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, Fattori F, Guimarães A, Santorelli FM, Vilarinho L. Instituto de Genética Médica Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. Abstract We report a novel 14724G...
Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmi...
ORMAZABAL, A.; GARCÍA CAZORLA, A.; PÉREZ DUEÑAS, B.; PINEDA, M.; RUIZ, A.; LÓPEZ LASO, E.; GARCÍA SILVA, M.; CARILHO, I.; BARBOT, C.; CORMAND, B.Med Clin (Barc). 2006 Jun 17;127(3):81-5. [Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier] [Article in Spanish] Ormazabal A, García Cazorla A, Pérez Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández Alvarez E, C...
Vómitos Cíclicos / Acidúria Glutárica tipo II - Caso Clínico
Sarmento, A.; Cardoso, M.; Teixeira, F.; Barbot, C.; Martins, E.RESUMO O síndrome de vómitos cíclicos caracteriza-se por episódios recorrentes de vómitos que persistem durante horas ou dias com intervalo de normalidade entre eles. O seu diagnóstico baseia-se na exclusão de outras patologias: alterações do aparelho gastrointestinal, lesão neurológica ocupante de espaço e doenças metabólicas. Apresenta-se o caso de uma adolescente de 13 anos, com má evolução staturoponderal, ...
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apr...
Moreira, M.C.; Klur, S.; Watanabe, M.; Németh, A.H.; Le Ber, I.; Moniz, J.C.; Tranchant, C.; Aubourg, P.; Tazir, M.; Schöls, L.; Pandolfo, M.Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice ...
Homozygosity mapping of a third Joubert syndrome locus to 6q23.
Lagier-Tourenne, C.; Boltshauser, E.; Breivik, N.; Gribaa, M.; Bétard, C.; Barbot, C.; Koenig, M.J Med Genet. 2004 Apr;41(4):273-7. Homozygosity mapping of a third Joubert syndrome locus to 6q23. Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M. IGBMC, CNRS/INSERM/ULP, Illkirch, C.U. de Strasbourg, France. Abstract BACKGROUND: Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxi...
Galactosemia: the genotype and phenotype of seven patients
MARTINS, E.; TEIXEIRA, J.; CARDOSO, M.; LIMA, M.; BRIONES‐GODINO, P.; BARBOT, C.Rev Neurol. 2004 Jun 16-30;38(12):1132-5. [Galactosemia: the genotype and phenotype of seven patients]. [Article in Spanish] Martins E, Teixeira J, Cardoso ML, Lima MR, Briones-Godino P, Barbot C. SourceUnidad de Metabolismo, Hospital de Niños Maria Pia, Oporto, Portugal. npo38871@mail.telepac.pt Abstract INTRODUCTION: Despite early dietary therapy, many patients with galactosemia show a neurodegenerative dise...
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