Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-247937
Abstract: Menkes disease (MD) is an X linked recessive multi-systemic disorder of copper metabolism, resulting from an ATP7A gene mutation. We report a male infant aged 4 months who presented with kinky hair, hypopigmented skin, epilepsy… read more here.
Keywords: copper; copper histidine; atp7a gene; splice site ... See more keywords
Menkes disease and response to copper histidine: An Indian case series
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DOI: 10.4103/0972-2327.199907
Abstract: Background: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological… read more here.
Keywords: copper histidine; copper; series; menkes disease ... See more keywords