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Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
Rij, M.C. van; Jansen, F.A.R.; Hellebrekers, D.M.E.I.; Onkenhout, W.; Smeets, H.J.M.; Hendrickx, A.T.; ... ; Hilhorst-Hofstee, Y. 2016
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
Article / Letter to editor
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Polyhydramnion and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
Rij, M.C. van; Jansen, F.A.R.; Hellebrekers, D.M.E.I.; Onkenhout, W.; Smeets, H.J.M.; Hendrickx, A.T.; ... ; Hilhorst-Hofstee, Y. 2016
Polyhydramnion and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene
Article / Letter to editor
metadata only
A primigravid woman with polyhydramnios and preterm contractions presented at 25 weeks pregnancy. Fetal ultrasound revealed periventricular cysts and cerebral hypoplasia. The neonate was born in a... Show moreA primigravid woman with polyhydramnios and preterm contractions presented at 25 weeks pregnancy. Fetal ultrasound revealed periventricular cysts and cerebral hypoplasia. The neonate was born in a poor condition, with increased serum lactate and pyruvate levels. Whole exome sequencing detected FBXL4 gene mutations causing recessive mitochondrial myopathy. Show less