WebLim AM, Tan PL, Visruthan NK, et al. HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant. Pediatr Pulmonol 2024; 57:1826. Hay E, Wilson LC, Hoskins B, et al. Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency. Eur J Hum Genet 2024; 29:1536. Webwww.hideagifts.com
Heyde
Web11 de abr. de 2024 · HIGHLIGHTS. who: HIDEA syndrome and colleagues from the Giannina Gaslini Institute (IRCCS), Italy The University of Iowa, United States have … Web1 de out. de 2014 · A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate genes with potentially pathogenic biallelic variants: transketolase ( TKT ), … texas occupational therapy license search
PubMed
Web11 de jul. de 2024 · Heyde syndrome is a multisystemic disorder characterized by the triad of aortic stenosis (AS), gastrointestinal bleeding, and acquired von Willebrand syndrome … Web22 de mar. de 2024 · HIDEA syndrome presents similarities with ROHHAD, including hypoventilation, obesity, and dysautonomia. To date, only 14% of endocrinological … WebHIDEA syndrome is a rare and novel disease. Early diagnosis is crucial to optimise adequate ventilatory management including early tracheostomy as many require lifelong … texas ocd cleaners