Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

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第一作者： Francesca,Minoia

第一单位： Second Division of Pediatrics, Istituto Giannina Gaslini, Genoa, Italy. francescaminoia@gaslini.org.

作者： Francesca,Minoia ^[1] ; Marta,Bertamino ^[2] ; Paolo,Picco ^[3] ; Mariasavina,Severino ^[4] ; Andrea,Rossi ^[4] ; Chiara,Fiorillo ^[5] ; Carlo,Minetti ^[5] ; Claudia,Nesti ^[6] ; Filippo Maria,Santorelli ^[6] ; Maja,Di Rocco ^[2]

作者单位： Second Division of Pediatrics, Istituto Giannina Gaslini, Genoa, Italy. francescaminoia@gaslini.org. ^[1] Rare Diseases Unit, Istituto Giannina Gaslini, Genoa, Italy. ^[2] Second Division of Pediatrics, Istituto Giannina Gaslini, Genoa, Italy. ^[3] Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy. ^[4] Neuromuscular Diseases Unit, Istituto Giannina Gaslini, Genoa, Italy. ^[5] Molecular Medicine and Neuromuscular Disorders, IRCCS Stella Maris, Calambrone, Pisa, Italy. ^[6]

关键词 Complex I deficiency Leigh syndrome Mitochondrial disorders NDUFA10 gene Neuroradiologic features

DOI 10.1007/8904_2017_9

PMID 28247337

发布时间 2020-09-30

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JIMD reports

2017年37卷

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Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

JIMD reports

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JIMD reports

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Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

JIMD reports

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JIMD reports

相关期刊

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