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p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease
Patient: Male, 39 Final Diagnosis: Fabry disease Symptoms: Acropareshesia • fatique Medication: — Clinical Procedure: Gene analysis Specialty: Metabolic Disorders and Diabetics OBJECTIVE: Rare disease BACKGROUND: Fabry disease is an X-linked disorder. Due to deficiency of the enzyme α-galactosidase...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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International Scientific Literature, Inc.
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4913751/ https://www.ncbi.nlm.nih.gov/pubmed/27156739 http://dx.doi.org/10.12659/AJCR.897024 |