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Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing |
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Titel: |
Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing |
Auteur: |
Ezgu, Fatih Çiftci, Bahattin Topçu, Burcu Adıyaman, Gülcan Gökmenoğlu, Hatice Küçükçongar, Aynur Kasapkara, Çiğdem Biberoğlu, Gürsel Tümer, Leyla Hasanoğlu, Alev |
Verschenen in: |
Metabolic brain disease |
Paginering: |
Jaargang 29 (2014) nr. 1 pagina's 211-213 |
Jaar: |
2014 |
Inhoud: |
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Uitgever: |
Springer US, Boston |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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