Quantitative Assessment of Microstructural Changes of the Retina in Infants With Congenital Zika Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2017.3292
Abstract: Importance A better pathophysiologic understanding of the neurodevelopmental abnormalities observed in neonates exposed in utero to Zika virus (ZIKV) is needed to develop treatments. The retina as an extension of the diencephalon accessible to in… read more here.
Keywords: cblc deficiency; microstructural changes; congenital zika; layer ... See more keywords
Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency
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DOI: 10.1007/s00415-022-11129-4
Abstract: Cobalamin C (CblC) deficiency (alias methylmalonic aciduria and homocystinuria, CblC type, OMIM # 277,400) is the most common inborn error of intracellular cobalamin metabolism. The onset is usually in the first year of life [1],… read more here.
Keywords: syndrome myoclonus; deficiency; cblc deficiency; epileptic syndrome ... See more keywords
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
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DOI: 10.1186/s13023-022-02179-y
Abstract: Background Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria and low plasma methionine. Despite being… read more here.
Keywords: cblc deficiency; adult; diagnosis; disease ... See more keywords