First manifestation of citrullinemia type I as Sandifer syndrome
We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is th...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hacettepe University Institute of Child Health
2017-12-01
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| Colecção: | The Turkish Journal of Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://turkjpediatr.org/article/view/1055 |
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