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Summary
HYPOMAGNESEMIA 4, RENAL HOMG4
HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
611718
OMIM = Online Medalian Inheritance of Men
34527
4q25
rare
autosomal recessive
mutation in the EGF gene
symptoms
onset, adolescent
onset, childhood
onset, infancy
laboratory finding
Literature
Minkler PE,et al.Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLMol Genet Metab1204363-3692017
Lang TFAdult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)J Inherit Metab Dis326675-6832009