Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs dise...
Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Genetic testing identified novel compound heterozygous missense variants in the
HEXA
gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. The patient gradually became unable to consume food orally. She suffered severe aspiration pneumonia and underwent gastrostomy and laryngotracheal s...
Alternative Titles
Full title
Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_9fc45db1001049baabfef37fd18844a0
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9fc45db1001049baabfef37fd18844a0
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-024-00300-0
