M T Garcia Silva

Summary

Country: Spain

Publications

  1. ncbi Congenital disorder of glycosylation (CDG) type Ie. A new patient
    M T Garcia-Silva
    Department of Paediatrics, Hospital 12 de Octubre, Madrid, Spain
    J Inherit Metab Dis 27:591-600. 2004
  2. ncbi Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients
    A Munoz
    Servicio de Radiodiagnostico, Hospital Universitario 12 de Octubre, Madrid, Spain
    Neuroradiology 41:920-8. 1999

Collaborators

  • G Matthijs
  • E Schollen
  • M T Garcia-Silva
  • R Simon
  • A Munoz
  • J C Cabrera
  • T Hennet
  • P Briones
  • M Maties
  • J Sanchez del Pozo
  • E Martin Hernandez
  • M Martí Herreros
  • S Cabello
  • F Mateos
  • J Arenas

Detail Information

Publications2

  1. ncbi Congenital disorder of glycosylation (CDG) type Ie. A new patient
    M T Garcia-Silva
    Department of Paediatrics, Hospital 12 de Octubre, Madrid, Spain
    J Inherit Metab Dis 27:591-600. 2004
    ..The patient is homozygous for a new mutation in exon 9 of the DPM1 gene (c742T>C (S248P)). Our findings extend the spectrum of CDG Ie...
  2. ncbi Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients
    A Munoz
    Servicio de Radiodiagnostico, Hospital Universitario 12 de Octubre, Madrid, Spain
    Neuroradiology 41:920-8. 1999
    ....