Literature DB >> 10957842

Rett syndrome.

M Ghofrani1, T Mahmoodian.   

Abstract

Rett syndrome is a progressive neurodegenerative disease of unknown etiology. Reported here are three children who presented with all clinical features of Rett syndrome. The aim of this presentation is to alert physicians to the existence of this progressive brain disease which only affects girls and so far no specific treatment has been suggested.

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Mesh：

Year:  2000        PMID： 10957842     DOI： 10.1007/bf02760490

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  10 in total

1.  Cerebrospinal fluid studies in the Rett syndrome: biogenic amines and beta-endorphins.

Authors:  S S Budden; E C Myer; I J Butler
Journal:  Brain Dev       Date:  1990       Impact factor: 1.961

2.  Rett syndrome and mitochondrial enzyme deficiencies.

Authors:  S B Coker; A R Melnyk
Journal:  J Child Neurol       Date:  1991-04       Impact factor: 1.987

3.  The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation.

Authors:  D E Comings
Journal:  Am J Med Genet Suppl       Date:  1986

4.  Cerebrospinal fluid values for monoamine metabolites, gamma-aminobutyric acid, and other amino compounds in Rett syndrome.

Authors:  T L Perry; H G Dunn; H H Ho; J U Crichton
Journal:  J Pediatr       Date:  1988-02       Impact factor: 4.406

5.  Rett syndrome. A commonly overlooked progressive encephalopathy in girls.

Authors:  M Al-Mateen; M Philippart; W D Shields
Journal:  Am J Dis Child       Date:  1986-08

6.  Genetic implications of Rett syndrome.

Authors:  J Wahlström
Journal:  Brain Dev       Date:  1985       Impact factor: 1.961

7.  Rett syndrome: a mitochondrial disease?

Authors:  O Eeg-Olofsson; A G al-Zuhair; A S Teebi; A S Daoud; M Zaki; M S Besisso; M M Al-Essa
Journal:  J Child Neurol       Date:  1990-07       Impact factor: 1.987

8.  Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome.

Authors:  T Matsuishi; F Urabe; A K Percy; H Komori; Y Yamashita; R S Schultz; Y Ohtani; N Kuriya; H Kato
Journal:  J Child Neurol       Date:  1994-01       Impact factor: 1.987

9.  Neuropathology of Rett syndrome: case report with neuronal and mitochondrial abnormalities in the brain.

Authors:  M E Cornford; M Philippart; B Jacobs; A B Scheibel; H V Vinters
Journal:  J Child Neurol       Date:  1994-10       Impact factor: 1.987

10.  Rett variants: a suggested model for inclusion criteria.

Authors:  B A Hagberg; O H Skjeldal
Journal:  Pediatr Neurol       Date:  1994-07       Impact factor: 3.372
  10 in total
  2 in total

1.  Insights into the evolutionary features of human neurodegenerative diseases.

Authors:  Arup Panda; Tina Begum; Tapash Chandra Ghosh
Journal:  PLoS One       Date:  2012-10-30       Impact factor: 3.240

2.  Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.

Authors:  Jafar Nasiri; Mansoor Salehi; Majid Hosseinzadeh; Mahdi Zamani; Shirin Fattahpour; Omid Aryani; Esmat Fazel Najafabadi; Maryam Jabarzadeh; Sara Asadi; Tahereh Gholamrezapour; Maryam Sedghi; Fatemeh Ghorbani
Journal:  Iran J Child Neurol       Date:  2019
  2 in total

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