[Persistent respiratory distress or something else?]

Rev Neurol. 2020 Jul 16;71(2):81-82. doi: 10.33588/rn.7102.2020062.
[Article in Spanish]

Abstract

¿Distrés respiratorio persistente o algo más?

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA-Binding Proteins / deficiency
  • DNA-Binding Proteins / genetics
  • Diagnosis, Differential
  • Exons / genetics
  • Gastrostomy
  • Glycogen Storage Disease Type II / diagnosis
  • Hernias, Diaphragmatic, Congenital / diagnosis
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics
  • Muscular Atrophy, Spinal / therapy
  • Mutation, Missense
  • Point Mutation
  • Respiration, Artificial
  • Respiratory Distress Syndrome, Newborn / diagnosis*
  • Respiratory Distress Syndrome, Newborn / genetics
  • Respiratory Distress Syndrome, Newborn / therapy
  • Transcription Factors / deficiency
  • Transcription Factors / genetics

Substances

  • DNA-Binding Proteins
  • IGHMBP2 protein, human
  • Transcription Factors

Supplementary concepts

  • Spinal muscular atrophy with respiratory distress 1