2020
DOI: 10.1096/fasebj.2020.34.s1.05416
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CblX is a New Cobalamin Syndrome Affecting Craniofacial Development

Abstract: Combined methylmalonic acidemia and homocystinuria (cblC type), an inherited disorder of cobalamin (vitamin B12) metabolism, is a rare metabolic and multi‐systemic disease caused by mutations in MMACHC. Patients with cblC can have severe neurodevelopmental defects including microcephaly, hydrocephaly, and seizures as well as renal, cardiac and hematological defects. Recently, two new variants of cblC were discovered and termed cblX and cblX‐like. Rather than being due to mutations in MMACHC, cblX and cblX‐like… Show more

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“…Among those, the Ronin gene is one of the latest introduced ones reported by Dejosez et al (2008) [20]. The THAP11 is a DNA binding protein which has potential to influence diverse cellular activities such as differentiation [21,22], proliferation [13,23], and cell migration [12,24]. Also, there are several reports about the roles of THAP11 in multiple cell regulatory mechanisms and diseases.…”
Section: Discussionmentioning
confidence: 99%
“…Among those, the Ronin gene is one of the latest introduced ones reported by Dejosez et al (2008) [20]. The THAP11 is a DNA binding protein which has potential to influence diverse cellular activities such as differentiation [21,22], proliferation [13,23], and cell migration [12,24]. Also, there are several reports about the roles of THAP11 in multiple cell regulatory mechanisms and diseases.…”
Section: Discussionmentioning
confidence: 99%