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Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency
Deficiency of debrancher enzyme causes Glycogen Storage Disease (GSD) type III, an autosomal recessive disorder, characterized by tissue accumulation of abnormally structured glycogen. This report reviews current clinical and molecular knowledge about this disorder and describes the variability at p...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pacini Editore SpA
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2949315/ https://ncbi.nlm.nih.gov/pubmed/17915576 |
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