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
Factor VII deficiency: A cause of (or risk factor for) bleeding?
Sign Up to like & getrecommendations! Published in 2023 at "British journal of haematology"
DOI: 10.1111/bjh.18806
Abstract: Among the rare bleeding disorders factor VII deficiency is the most common, but correlating deficiency with bleeding phenotype is challenging. In their study Lou and colleagues investigate a large cohort of unrelated factor VII deficient… read more here.
Keywords: deficiency cause; cause risk; factor vii; factor ... See more keywords
LCAT deficiency as a cause of proteinuria and corneal opacification
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-224129
Abstract: A 44-year-old woman was diagnosed with corneal dystrophy (figure 1) and anaemia. Analytically, she showed an altered lipid profile (cholesterol 172 mg/dL, triglycerides 173 mg/dL, high-density lipoprotein (HDL) cholesterol 6.6 mg/dL, low-density lipoprotein cholesterol 131 mg/dL, very low-density lipoprotein (VLDL)… read more here.
Keywords: lcat deficiency; deficiency cause; density lipoprotein; cause proteinuria ... See more keywords