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Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis
Pompe disease is characterised by deficiency of acid α-glucosidase that results in abnormal glycogen deposition in the muscles. Alkaptonuria is caused by a defect in the enzyme homogentisate 1,2-dioxygenase with subsequent accumulation of homogentisic acid. We report the case of a 6-year-old boy dia...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3644914/ https://ncbi.nlm.nih.gov/pubmed/23632174 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-008491 |
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