高歇氏病：评分系统
除了将高歇氏病的临床分类划为 1 型、2 型和 3 型，还发布了高歇氏病的多种评分系统。这些系统的主要目标是评估治疗效果（例如，酶替代疗法对疾病特定方面、骨骼在磁共振成像下的外观或者血细胞计数的作用）。[30]Maas M, Hangartner T, Mariani G, et al. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol. 2008 Mar;37(3):185-8.http://link.springer.com/article/10.1007/s00256-007-0425-0/fulltext.htmlhttp://www.ncbi.nlm.nih.gov/pubmed/18094966?tool=bestpractice.com[46]Di Rocco M, Giona F, Carubbi F, et al. A new severity score index for phenotypic classification and evaluation of responses to treatment in type 1 Gaucher disease. Haematologica. 2008 Aug;93(8):1211-8.http://www.haematologica.org/content/93/8/1211http://www.ncbi.nlm.nih.gov/pubmed/18603565?tool=bestpractice.com[47]Zimran A, Elstein D, Kannai R, et al. Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment. Am J Med. 1994 Jul;97(1):3-13.http://www.ncbi.nlm.nih.gov/pubmed/8030654?tool=bestpractice.com
法布瑞氏症：Mainz分数
法布瑞氏症的评分系统允许评估在个体患者中多系统（全身的、神经学上的、心血管的和肾脏的）受累的严重性。[48]Whybra C, Kampmann C, Krummenauer F, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet. 2004 Apr;65(4):299-307.http://www.ncbi.nlm.nih.gov/pubmed/15025723?tool=bestpractice.com
其他溶酶体贮积病（LSD）评分系统
LSDs通过治疗进展已得到了改善，其他评分系统的范例包括一个用于预测脐带血移植之后结局的婴儿型克拉贝氏病的系统。[49]Escolar ML, Poe MD, Martin HR, et al. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics. 2006 Sep;118(3):e879-89.http://www.ncbi.nlm.nih.gov/pubmed/16923928?tool=bestpractice.com
