Now showing items 1-10 of 70
Síndrome de Rett: estudo retrospectivo e prospectivo de 28 pacientesRett syndrome: retrospective and prospective study of 28 patients
(Academia Brasileira de Neurologia - ABNEURO, 2001)
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
(W.B. Saunders Ltd, 2019)
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although ...
Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV
(Dove Medical Press Ltd, 2014-01-01)
We aimed to evaluate the functional abilities of persons with Rett syndrome (RTT) in stages III and IV. The group consisted of 60 females who had been diagnosed with RTT: 38 in stage III, mean age (years) of 9.14, with a ...
Síndrome de Rett: análisis molecular del gen MECP2 en pacientes chilenas
El síndrome de Rett (RTT) es un trastorno neurológico progresivo caracterizado por producir una regresión del desarrollo psicomotor en niñas previamente sanas. La mayoría de los casos son causados por variantes patogénicas ...
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature
(Academic Press Ltd - Elsevier Science Ltd, 2016-02)
Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed ...
Eating practices, nutritional status and constipation in patients with Rett syndrome
(Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE Colégio Brasileiro de Cirurgia Digestiva - CBCD Sociedade Brasileira de Motilidade Digestiva - SBMD Federação Brasileira de Gastroenterologia - FBGSociedade Brasileira de Hepatologia - SBHSociedade Brasileira de Endoscopia Digestiva - SOBED, 2008-12-01)
BACKGROUND: Disturbance in chewing, swallowing and digestive motility may predispose to feeding and nutritional abnormalities in patients with Rett syndrome. OBJECTIVE: To evaluate the dietary habits, nutritional status ...
Genotype-phenotype correlation in Brazillian Rett syndrome patients
(Academia Brasileira de Neurologia - ABNEURO, 2009-09-01)
BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between ...