L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients
スポンサーリンク
概要
著者
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Diogo Luisa
Servico De Metabolicas Hospital Pediatrico De Coimbra
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GUIMARAES Antonio
Servico de Neuropatologia, Hospital Geral de Santo Antonio
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BARBOT Clara
Servico de Neuropediatria, Hospital de Criancas Maria Pia
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FINEZA Isabel
Servico de Neuropediatria, Hospital Pediatrico
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MAIA Maria
Servico de Neuropediatria, Hospital de Criancas Maria Pia
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MELO Jose
Servico de Neuropediatria, Hospital de Santo Antonio
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PIRES Manuel
Servico de Neuropediatria, Hospital de Santo Antonio
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LUIS MARIA
Instiuto de Genetica Medica
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VILARINHO Laura
Instiuto de Genetica Medica
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Melo Jose
Servico De Neuropediatria Hospital De Santo Antonio
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Maia Maria
Servico De Neuropediatria Hospital De Criancas Maria Pia
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Barbot Clara
Servico De Neuropediatria Hospital De Criancas Maria Pia
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Pires Manuel
Servico De Neuropediatria Hospital De Santo Antonio
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Vilarinho Laura
Instituto De Genetica Medica Jacinto Magalhaes
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Fineza Isabel
Centro De Desenvolvimento Da Crianca Luis Borges Hospital Pediatrico De Coimbra
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Guimaraes Antonio
Servico De Neuropatologia Hospital Geral De Santo Antonio
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Guimaraes Antonio
Unidade De Neuropatologia Centro Hospitalar Do Porto
関連論文
- Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy
- L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients
- The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
- Rett syndrome with and without detected MECP2 mutations : An attempt to redefine phenotypes
- Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51