Congenital abnormalities in Japanese patients with Menkes disease.

doi:10.1016/j.braindev.2012.01.012

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Article

Congenital abnormalities in Japanese patients with Menkes disease.

Brain & development - 1 Oct 2012

Gu Yan-Hong, Kodama Hiroko, Kato Tadaaki

Abstract excerpt

Menkes disease (MNK) is an X-linked recessive disorder. Incidence of live-born infants with MNK is 2.8 per million live births in Japan. The aim of this study was to observe congenital malformations (CMs) in MNK patients. Subjects comprised 35 Japanese male patients with classical MNK who received copper histidine treatment. Patient clinical data were obtained anonymously from medical records or medical record...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22361452
DOI: 10.1016/j.braindev.2012.01.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.