Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.

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作者： Larissa Sampaio de Athayde,Costa ^[1] ; Stephanie Pucci,Pegler ^[1] ; Rute Facchini,Lellis ^[2] ; Vera Lúcia Jornada,Krebs ^[3] ; Stephen,Robertson ^[4] ; Tim,Morgan ^[4] ; Rachel Sayuri,Honjo ^[1] ; Débora Romeo,Bertola ^[1] ; Chong Ae,Kim ^[1]

作者单位： Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil. ^[1] Patology Department, Instituto de Infectologia Emílio Ribas, São Paulo, SP, Brazil. ^[2] HC, FM, Universidade de São Paulo, São Paulo, SP, Brazil. ^[3] Department of Women and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zeland. ^[4]

主题词腺苷三磷酸酶类(Adenosine Triphosphatases);阳离子转运蛋白质类(Cation Transport Proteins);血浆铜蓝蛋白(Ceruloplasmin);铜(Copper);致命性结局(Fatal Outcome);女(雌)性(Female);毛发疾病(Hair Diseases);组氨酸(Histidine);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);Menkes卷发综合征(Menkes Kinky Hair Syndrome);分子诊断技术(Molecular Diagnostic Techniques);有机金属化合物(Organometallic Compounds);妊娠(Pregnancy)

DOI 10.1590/1806-9282.61.05.407

PMID 26603002

发布时间 2019-12-10

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Revista da Associacao Medica Brasileira (1992)

407-10页

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Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.

Revista da Associacao Medica Brasileira (1992)

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Revista da Associacao Medica Brasileira (1992)

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Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.

Revista da Associacao Medica Brasileira (1992)

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Revista da Associacao Medica Brasileira (1992)

相关期刊

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