TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12149
Abstract: Exome sequencing has recently identified mutations in the gene TANGO2 (transport and Golgi organization 2) as a cause of developmental delay associated with recurrent crises involving rhabdomyolysis, cardiac arrhythmias, and metabolic derangements. The disease is… read more here.
Keywords: cause; deficiency cause; delay; tango2 deficiency ... See more keywords
Reinterpretation of a previously described Jehol bird clarifies early trophic evolution in the Ornithuromorpha
Sign Up to like & getrecommendations! Published in 2018 at "Proceedings of the Royal Society B: Biological Sciences"
DOI: 10.1098/rspb.2017.2494
Abstract: STM35-3 from the Yixian Formation is the only Early Cretaceous ornithuromorph preserving direct evidence of granivory. The crop contains numerous seeds and the preservation of gastroliths presumably within the ventriculus indicates this diet was paired… read more here.
Keywords: described jehol; bird; reinterpretation; jehol bird ... See more keywords
New and previously described Acleotrema species (Monogenea, Diplectanidae) parasitizing sea chubs (Centrarchiformes: Kyphosidae) in the Southeastern Pacific Ocean.
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DOI: 10.11646/zootaxa.5570.3.5
Abstract: During a study on the diversity of monogeneans infecting kyphosid fishes off the coast of Puerto Santa Rosa, Lambayeque region, northern Peru, specimens of the Cortez sea chub Kyphosus elegans (Peters) and the brassy chub… read more here.
Keywords: new previously; previously described; vaigiensis; yamaguti 1968 ... See more keywords
Clinical and molecular evidences of HTLV-1 infection in inpatients diagnosed with diseases previously described as associated to this infection: A case series in Gabon, Central Africa
Sign Up to like & getrecommendations! Published in 2025 at "PLOS Neglected Tropical Diseases"
DOI: 10.1371/journal.pntd.0013075
Abstract: The Human T-cell Leukemia Virus Type 1 (HTLV-1) infection is endemic in Gabon, and despite the high prevalence, very few cases of HTLV-1 associated diseases are sporadically described. A cross-sectional study was conducted in the… read more here.
Keywords: htlv infection; previously described; infection; htlv ... See more keywords