一次偶然但具有特征性的血涂片观察，使得黏多糖贮积症VII型得以晚期诊断。 - Suppr

A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII.

作者信息

Goudji Cedrick W, Schick Tobias, Cherkaoui Sara, Camaiani Massimo, Dewulf Joseph P, Nassogne Marie-Cecile, Chevalier Charles

机构信息

Hematology Unit, Department of Clinical Biology, CHU Charleroi, Lodelinsart, Belgium.

General Surgery Department, CHU Charleroi, Lodelinsart, Belgium.

出版信息

Clin Chem Lab Med. 2021 Dec 17;60(3):85-87. doi: 10.1515/cclm-2021-0966. Print 2022 Feb 23.

DOI:10.1515/cclm-2021-0966

PMID:34913623

Abstract

摘要

相似文献

A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII.一次偶然但具有特征性的血涂片观察，使得黏多糖贮积症VII型得以晚期诊断。

Clin Chem Lab Med. 2021 Dec 17;60(3):85-87. doi: 10.1515/cclm-2021-0966. Print 2022 Feb 23.

Sly Disease: Mucopolysaccharidosis Type VII.斯利病：黏多糖贮积症VII型

Indian Pediatr. 2008 Oct;45(10):859-61.

Lentiviral-mediated gene therapy results in sustained expression of β-glucuronidase for up to 12 months in the gus(mps/mps) and up to 18 months in the gus(tm(L175F)Sly) mouse models of mucopolysaccharidosis type VII.在黏多糖贮积症VII型的gus（mps/mps）小鼠模型中，慢病毒介导的基因治疗可使β-葡萄糖醛酸酶持续表达长达12个月；在gus（tm（L175F）Sly）小鼠模型中则可持续表达长达18个月。

Hum Gene Ther. 2014 Sep;25(9):798-810. doi: 10.1089/hum.2013.141. Epub 2014 Aug 14.

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.黏多糖贮积症 VII 型患者和犬的口腔表现。

Am J Med Genet A. 2019 Mar;179(3):486-493. doi: 10.1002/ajmg.a.61034. Epub 2019 Jan 17.

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.通过靶向诱变产生的小鼠黏多糖贮积症VII型的错义模型[Gustm(E536A)Sly、Gustm(E536Q)Sly和Gustm(L175F)Sly] 。

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14982-7. doi: 10.1073/pnas.232570999. Epub 2002 Oct 28.

Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice.活性位点突变转基因赋予对人β-葡萄糖醛酸酶的耐受性，而不影响黏多糖贮积症VII型小鼠的表型。

Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2205-10. doi: 10.1073/pnas.051623698. Epub 2001 Feb 13.

Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease.小鼠VII型黏多糖贮积症：溶酶体贮积病小鼠模型中治疗对临床进程和病理学的影响。

J Inherit Metab Dis. 1998 Aug;21(5):575-86. doi: 10.1023/a:1005423222927.

A novel model of murine mucopolysaccharidosis type VII due to an intracisternal a particle element transposition into the beta-glucuronidase gene: clinical and pathologic findings.由于脑池内A颗粒元件转位至β-葡萄糖醛酸酶基因导致的小鼠VII型黏多糖贮积症新模型：临床和病理发现

Pediatr Res. 2001 Mar;49(3):342-8. doi: 10.1203/00006450-200103000-00007.

Glycosaminoglycan storage in cultured neonatal murine mucopolysaccharidosis type VII neuroglial cells and correction by beta-glucuronidase gene transfer.糖胺聚糖在培养的新生鼠黏多糖贮积症VII型神经胶质细胞中的储存及β-葡萄糖醛酸酶基因转移的纠正作用

J Neurochem. 1997 May;68(5):2079-85. doi: 10.1046/j.1471-4159.1997.68052079.x.

Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis.

Prenat Diagn. 1998 Aug;18(8):822-5. doi: 10.1002/(sici)1097-0223(199808)18:8<822::aid-pd361>3.0.co;2-6.

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A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII.

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