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Article

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

Intensive care medicine - 1 Nov 2006

Giannini Alberto, Pinto Anna Maria, Rossetti Giordano, Prandi Edi, Tiziano Danilo, Brahe Christina, Nardocci Nardo

Abstract excerpt

BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible di...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16964485
DOI: 10.1007/s00134-006-0346-8

Genes

IGHMBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16964485-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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