Citation：
邓曦, 陈晓玲, 米芳, 高银华, 李旭东, 何平. 家族性法布雷病三例. West China Medical Journal, 2022, 37(7): 1118-1120. doi: 10.7507/1002-0179.202206008
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中国法布雷病专家协作组. 中国法布雷病诊疗专家共识(2021 年版). 中华内科杂志, 2021, 60(4): 321-330.
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Politei JM, Bouhassira D, Germain DP, et al. Pain in Fabry disease: practical recommendations for diagnosis and treatment. CNS Neurosci Ther, 2016, 22(7): 568-576.
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| 3. |
Bothou C, Beuschlein F, Nowak A. Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study. Endocrine, 2022, 75(3): 728-739.
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| 4. |
Morrissey RP, Philip KJ, Schwarz ER. Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy. Cardiovasc J Afr, 2011, 22(1): 38-44.
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Linhart A, Paleček T. Narrative review on Morbus Fabry: diagnosis and management of cardiac manifestations. Cardiovasc Diagn Ther, 2021, 11(2): 650-660.
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| 6. |
Mahmud HM. Fabry’s disease-a comprehensive review on pathogenesis, diagnosis and treatment. J Pak Med Assoc, 2014, 64(2): 189-194.
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| 7. |
Svarstad E, Marti HP. The changing landscape of Fabry disease. Clin J Am Soc Nephrol, 2020, 15(4): 569-576.
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| 8. |
Rodríguez-Marí A, Coll MJ, Chabás A. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat, 2003, 22(3): 258.
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| 9. |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.
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| 10. |
Simonetta I, Tuttolomondo A, Daidone M, et al. Treatment of Anderson-Fabry disease. Curr Pharm Des, 2020, 26(40): 5089-5099.
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- 1. 中国法布雷病专家协作组. 中国法布雷病诊疗专家共识(2021 年版). 中华内科杂志, 2021, 60(4): 321-330.
- 2. Politei JM, Bouhassira D, Germain DP, et al. Pain in Fabry disease: practical recommendations for diagnosis and treatment. CNS Neurosci Ther, 2016, 22(7): 568-576.
- 3. Bothou C, Beuschlein F, Nowak A. Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study. Endocrine, 2022, 75(3): 728-739.
- 4. Morrissey RP, Philip KJ, Schwarz ER. Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy. Cardiovasc J Afr, 2011, 22(1): 38-44.
- 5. Linhart A, Paleček T. Narrative review on Morbus Fabry: diagnosis and management of cardiac manifestations. Cardiovasc Diagn Ther, 2021, 11(2): 650-660.
- 6. Mahmud HM. Fabry’s disease-a comprehensive review on pathogenesis, diagnosis and treatment. J Pak Med Assoc, 2014, 64(2): 189-194.
- 7. Svarstad E, Marti HP. The changing landscape of Fabry disease. Clin J Am Soc Nephrol, 2020, 15(4): 569-576.
- 8. Rodríguez-Marí A, Coll MJ, Chabás A. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat, 2003, 22(3): 258.
- 9. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.
- 10. Simonetta I, Tuttolomondo A, Daidone M, et al. Treatment of Anderson-Fabry disease. Curr Pharm Des, 2020, 26(40): 5089-5099.
Journal type citation(1)
| 1. | 吴晓，余艮珍，黄实，朱振云. 4例法布雷病患者行酶替代治疗的护理. 当代护士(中旬刊). 2024(07): 96-98 .  Baidu Scholar | |
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