[Prematurity with cerebral palsy and ceroid lipofuscinosis].

  title={[Prematurity with cerebral palsy and ceroid lipofuscinosis].},
  author={Jos{\'e} Lu{\'i}s Pe{\~n}a-Segura and P. Poo Arg{\"u}elles and Miguel Lafuente Hidalgo and V Garc{\'i}a S{\'a}nchez and Raquel P{\'e}rez Delgado and L. Monge Galindo and Mar{\'i}a Concepci{\'o}n Garc{\'i}a Jim{\'e}nez and V. Rebage Mois{\'e}s and Javier L{\'o}pez Pis{\'o}n},
  journal={Anales de pediatria},
  volume={73 5},
1 Citations

Depressed Brainstem Auditory Function in Children With Cerebral Palsy

The results suggest that brainstem auditory function in children with cerebral palsy is depressed, which may be owing to decreased or altered neural firing or synchrony in the auditory brainstem.



Pheno/genotypic correlations of neuronal ceroid lipofuscinoses

The recognition of variable onset from infancy to middle age supersedes the traditional emphasis on age-related NCL forms and is hailed as a new approach to lysosomal storage disorders.

The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses

The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited severe neurodegenerative disorders primarily affecting children. They are characterised by the

Current State of Clinical and Morphological Features in Human NCL

It is found that about 104 patients with NCL did not fit this classification of NCL, and 4 additional forms have been recognized: Finnish, Gypsy/Indian, Turkish, and Northern epilepsy, also known as progressove epilepsy with mental retaedation.

Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.

Methods for determining several lysosomal enzymes from dried blood spots (DBS) have recently been described and are also used routinely for enzyme measurements within newborn-screening programs for the detection of biotinidase and galactose-uridyltransferase deficiencies in neonates.

Development and reliability of a system to classify gross motor function in children with cerebral palsy

A five‐level classification system analogous to the staging and grading systems used in medicine, which has application for clinical practice, research, teaching, and administration is developed.

Development of the Gross Motor Function Classification System for cerebral palsy

The ideas and work behind the creation of the GMFCS are recounted, the lessons learned are reported on, and some philosophical challenges inherent in trying to develop an ordered, valid, and consistent system to describe function in children and adolescents with developmental differences are identified.

Lipofuscinosis neuronal ceroidea infantil: aspectos clı́nicos y electorencefalográficos

  • Rev Neurol
  • 2005