桑菲利波病：脑脊液中的布霍特细胞。 - Suppr | 超能文献

Sanfilippo disease: Buhot cells in the cerebrospinal fluid.

作者信息

Garcia-Riego A, Prats J M, Zarranz J J

出版信息

Acta Cytol. 1978 Sep-Oct;22(5):282-4.

Abstract

摘要

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Sanfilippo disease: Buhot cells in the cerebrospinal fluid.桑菲利波病：脑脊液中的布霍特细胞。

Acta Cytol. 1978 Sep-Oct;22(5):282-4.

2

Sanfilippo syndrome: a case report of mucopolysaccharidosis III A.

J Kans Med Soc. 1979 Sep;80(9):494-8.

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[Prenatal diagnosis of Sanfilippo A disease (mucopolysaccharidosis IIIA)].[黏多糖贮积症IIIA型（Sanfilippo A病）的产前诊断]

Orv Hetil. 1986 Sep 28;127(39):2385-7.

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[Sanfilippo's disease--accompanying findings in maxillofacial surgery as an aid to differential diagnosis of type III mucopolysaccharidosis].[桑菲利波病——颌面外科的伴随发现，有助于Ⅲ型黏多糖贮积症的鉴别诊断]

Dtsch Z Mund Kiefer Gesichtschir. 1988 Jul-Aug;12(4):289-92.

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First-trimester diagnosis of mucopolysaccharidosis IIIA (Sanfilippo A disease).黏多糖贮积症IIIA型（Sanfilippo A病）的孕早期诊断。

N Engl J Med. 1986 Jan 16;314(3):185-6. doi: 10.1056/NEJM198601163140319.

6

[Mucopolysaccharidoses].[黏多糖贮积症]

Pediatr Pol. 1976 Jun;51(6):735-47.

7

[Ruling out fetal Sanfilippo's syndrome (mucopolysaccharidosis IIIA) in the first trimester of pregnancy].[孕早期排除胎儿桑菲利波综合征（黏多糖贮积症IIIA型）]

Orv Hetil. 1989 Jan 29;130(5):233-4.

8

Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria.临床病理讨论会：一名患有严重智力障碍和黏多糖贮积症的青春期女孩

Am J Med Genet. 1985 Sep;22(1):1-27. doi: 10.1002/ajmg.1320220102.

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[Mucopolysaccharidosis].[黏多糖贮积症]

Nouv Presse Med. 1977 May 14;6(20):1745-6.

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Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source.桑菲利波综合征C型诊断：以[14C]葡糖胺为底物、白细胞为酶源的乙酰辅酶A：α-葡糖胺N-乙酰基转移酶测定法。

Pediatr Res. 1984 Jun;18(6):543-5. doi: 10.1203/00006450-198406000-00013.

引用本文的文献

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Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media.避免ⅢB型黏多糖贮积症的诊断延迟：不要忽视喘息和中耳炎等常见线索。

BMJ Case Rep. 2018 Jul 25;2018:bcr-2018-224412. doi: 10.1136/bcr-2018-224412.