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Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III.

作者信息

Gatti R, Borrone C, Durand P, De Virgilis S, Sanna G, Cao A, von Figura K, Kresse H, Paschke E

出版信息

Eur J Pediatr. 1982 Mar;138(2):168-71. doi: 10.1007/BF00441147.

DOI:10.1007/BF00441147
PMID:6807676
Abstract
摘要

相似文献

1
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III.桑菲利波 D 型病：两名患有黏多糖贮积症 III 新变体患者的临床发现
Eur J Pediatr. 1982 Mar;138(2):168-71. doi: 10.1007/BF00441147.
2
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases.桑菲利波病（黏多糖贮积症III型）D型的临床异质性：两例新病例报告
Eur J Pediatr. 1983 Apr;140(2):130-3. doi: 10.1007/BF00441662.
3
[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.
4
[Mucopolysaccharidosis III (Sanfilippo's syndrome): phenotypic characterization].[黏多糖贮积症III型（桑菲利波综合征）：表型特征]
Rev Hosp Clin Fac Med Sao Paulo. 1976 Nov-Dec;31(6):478-83.
5
Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships.桑菲利波综合征B型的临床变异性：关于两个相关同胞家族中6例患者的报告
Clin Genet. 1976 Nov;10(5):279-84. doi: 10.1111/j.1399-0004.1976.tb00049.x.
6
The laboratory diagnosis of Sanfilippo disease.桑菲力波综合征的实验室诊断
Clin Chim Acta. 1977 Apr 1;76(1):139-47. doi: 10.1016/0009-8981(77)90126-7.
7
Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy.桑菲利波B综合征（黏多糖贮积症III B型）：脑脊液黏多糖及结膜活检分析的病例报告
J Neurol. 1981;225(2):77-83. doi: 10.1007/BF00313321.
8
Sanfilippo syndrome: a case report of mucopolysaccharidosis III A.
J Kans Med Soc. 1979 Sep;80(9):494-8.
9
Sanfilippo type D presenting with acquired language disorder but without features of mucopolysaccharidosis.表现为获得性语言障碍但无黏多糖贮积症特征的D型Sanfilippo综合征
J Child Neurol. 1994 Oct;9(4):408-11. doi: 10.1177/088307389400900415.
10
Sanfilippo syndrome, glucose-6-phosphate dehydrogenase deficiency and sickle cell/β+ thalassemia in a child: the burden of consanguinity.一名儿童患桑菲利普综合征、葡萄糖-6-磷酸脱氢酶缺乏症和镰状细胞/β+地中海贫血：近亲结婚的负担
Am J Med Genet A. 2014 Jan;164A(1):267-9. doi: 10.1002/ajmg.a.36180. Epub 2013 Sep 12.

引用本文的文献

1
Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.Ⅲ型黏多糖贮积症的胃肠道表现：死亡证明及文献综述
J Clin Med. 2021 Sep 27;10(19):4445. doi: 10.3390/jcm10194445.
2
Epidemiology of mucopolysaccharidoses.黏多糖贮积症的流行病学
Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26.
3
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID).用于诊断D型Sanfilippo病（粘多糖贮积症IIID型）的荧光酶测定法。

本文引用的文献

1
[MORQUIO'S DISEASE. CLINICAL, RADIOLOGICAL AND BIOLOGICAL STUDY].[莫尔基奥氏病。临床、放射学及生物学研究]
Presse Med (1893). 1963 Oct 23;71:2091-4.
2
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).黏多糖贮积症Ⅲ型（A、B和C型）的基因异质性与临床变异性
Clin Genet. 1981 Aug;20(2):152-60. doi: 10.1111/j.1399-0004.1981.tb01821.x.
3
N-acetylglucosamine-6-sulfate sulfatase deficiency reconsidered.N-乙酰葡糖胺-6-硫酸酯硫酸酯酶缺乏症再探讨。
J Inherit Metab Dis. 1993;16(6):935-41. doi: 10.1007/BF00711508.
4
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases.桑菲利波病（黏多糖贮积症III型）D型的临床异质性：两例新病例报告
Eur J Pediatr. 1983 Apr;140(2):130-3. doi: 10.1007/BF00441662.
5
Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.人类氨基葡萄糖-6-硫酸酯酶基因定位于12q14。
Hum Genet. 1988 Jun;79(2):175-8. doi: 10.1007/BF00280560.
6
Sanfilippo syndrome type D in two adolescent sisters.两名青春期姐妹患D型Sanfilippo综合征。
J Med Genet. 1991 Jun;28(6):402-5. doi: 10.1136/jmg.28.6.402.
7
Human glucosamine-6-sulphatase deficiency. Diagnostic enzymology towards heparin-derived trisaccharide substrates.人类氨基葡萄糖-6-硫酸酯酶缺乏症。针对肝素衍生三糖底物的诊断酶学。
Biochem J. 1992 Mar 1;282 ( Pt 2)(Pt 2):605-14. doi: 10.1042/bj2820605.
Science. 1980 Oct;210(4468):448. doi: 10.1126/science.6776626.
4
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.桑菲利波病D型：硫酸乙酰肝素降解所需的N-乙酰氨基葡萄糖-6-硫酸酯硫酸酯酶缺乏症。
Proc Natl Acad Sci U S A. 1980 Nov;77(11):6822-6. doi: 10.1073/pnas.77.11.6822.
5
Sequential thin layer chromatography of urinary acidic glycosaminglycans.尿酸性糖胺聚糖的连续薄层色谱法
Clin Chim Acta. 1972 Aug;40(1):290-3. doi: 10.1016/0009-8981(72)90287-2.
6
Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.桑菲利波综合征：B型患者器官和皮肤成纤维细胞中α-乙酰氨基葡萄糖苷酶活性严重缺乏。
Proc Natl Acad Sci U S A. 1972 Jul;69(7):1720-2. doi: 10.1073/pnas.69.7.1720.
7
The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.桑菲利波B校正因子：一种N-乙酰-α-D-氨基葡糖苷酶。
Biochem Biophys Res Commun. 1972 Jul 25;48(2):262-9. doi: 10.1016/s0006-291x(72)80044-5.
8
The Sanfilippo A corrective factor. Purification and mode of action.桑菲利波A校正因子。纯化及作用方式。
J Biol Chem. 1972 Apr 10;247(7):2164-70.
9
Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver.桑菲利波综合征A：培养的皮肤成纤维细胞和肝脏中硫酸酯酶缺乏
J Clin Invest. 1974 Oct;54(4):907-12. doi: 10.1172/JCI107830.
10
Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.黏多糖贮积症Ⅲ型A（Sanfilippo A病）：皮肤成纤维细胞和白细胞中硫酸乙酰肝素酰胺酶缺乏。
Biochem Biophys Res Commun. 1973 Oct 1;54(3):1111-8. doi: 10.1016/0006-291x(73)90807-3.