黏脂贮积症Ⅲα/β 型一例_West China Medical Journal

Authors：

何喜宁 ^1,2 , 陆庭斌 ³ , 侯新芳 ¹ , 李红霞 ¹ ,  刘俐 ²

Corresponding author：

刘俐, Email: liuli918@163.com

Keywords：

黏脂贮积症Ⅲα/β 型; 功能障碍; 康复管理

DOI：

10.7507/1002-0179.202403298

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Citation： 何喜宁, 陆庭斌, 侯新芳, 李红霞, 刘俐. 黏脂贮积症Ⅲα/β 型一例. West China Medical Journal, 2024, 39(8): 1337-1340. doi: 10.7507/1002-0179.202403298 Copy

1.	Dogterom EJ, Wagenmakers MAEM, Wilke M, et al. Mucolipidosis type II and type III: a systematic review of 843 published cases. Genet Med, 2021, 23(11): 2047-2056.
2.	Velho RV, Harms FL, Danyukova T, et al. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: update on GNPTAB and GNPTG mutations. Hum Mutat, 2019, 40(7): 842-864.
3.	Oussoren E, van Eerd D, Murphy E, et al. Mucolipidosis type III, a series of adult patients. J Inherit Metab Dis, 2018, 41(5): 839-848.
4.	Wang RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med, 2011, 13(5): 457-484.
5.	Kollmann K, Pestka JM, Kühn SC, et al. Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. EMBO Mol Med, 2013, 5(12): 1871-1886.
6.	Cathey SS, Leroy JG, Wood T, et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet, 2010, 47(1): 38-48.

1. Dogterom EJ, Wagenmakers MAEM, Wilke M, et al. Mucolipidosis type II and type III: a systematic review of 843 published cases. Genet Med, 2021, 23(11): 2047-2056.
2. Velho RV, Harms FL, Danyukova T, et al. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: update on GNPTAB and GNPTG mutations. Hum Mutat, 2019, 40(7): 842-864.
3. Oussoren E, van Eerd D, Murphy E, et al. Mucolipidosis type III, a series of adult patients. J Inherit Metab Dis, 2018, 41(5): 839-848.
4. Wang RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med, 2011, 13(5): 457-484.
5. Kollmann K, Pestka JM, Kühn SC, et al. Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. EMBO Mol Med, 2013, 5(12): 1871-1886.
6. Cathey SS, Leroy JG, Wood T, et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet, 2010, 47(1): 38-48.