Ⅲ型黏多糖贮积症的管理 - Suppr

Suppr

超能文献

Management of mucopolysaccharidosis type III.

作者信息

Cleary M A, Wraith J E

机构信息

Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital.

出版信息

Arch Dis Child. 1993 Sep;69(3):403-6. doi: 10.1136/adc.69.3.403.

DOI:10.1136/adc.69.3.403

PMID:8215557

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1029535/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/44e2/1029535/470c0e622e5f/archdisch00556-0072-a.jpg

相似文献

Management of mucopolysaccharidosis type III.Ⅲ型黏多糖贮积症的管理

Arch Dis Child. 1993 Sep;69(3):403-6. doi: 10.1136/adc.69.3.403.

Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study.桑菲利波综合征中与认知、行为和运动障碍相关的发育和退化模式：一项流行病学研究。

J Ment Defic Res. 1983 Sep;27 (Pt 3):185-203. doi: 10.1111/j.1365-2788.1983.tb00291.x.

Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.

Clin Genet. 2002 Nov;62(5):418-21. doi: 10.1034/j.1399-0004.2002.620512.x.

Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.黏多糖贮积症I型（Hurler综合征）和A型Sanfilippo综合征的家族内变异性：对新疗法评估的意义

Am J Med Genet. 1993 Nov 15;47(7):1092-5. doi: 10.1002/ajmg.1320470732.

Behaviour in mucopolysaccharide disorders.黏多糖贮积症中的行为表现

Arch Dis Child. 1995 Jul;73(1):77-81. doi: 10.1136/adc.73.1.77.

[Pediatric hospice services provide respite care in daily life].

Kinderkrankenschwester. 2008 Sep;27(9):359-60.

Sleep problems in children with Sanfilippo syndrome.桑菲力波综合征患儿的睡眠问题。

Dev Med Child Neurol. 1996 Jun;38(6):538-44. doi: 10.1111/j.1469-8749.1996.tb12114.x.

Sleep disorders in Sanfilippo syndrome: a polygraphic study.

Clin Electroencephalogr. 2003 Jan;34(1):18-22. doi: 10.1177/155005940303400108.

Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study.黏多糖贮积症Ⅲ型睡眠障碍：一项家长问卷调查研究

Arch Dis Child. 2005 Dec;90(12):1239-42. doi: 10.1136/adc.2004.065482.

Mild Sanfilippo syndrome: a further cause of hyperactivity and behavioural disturbance.轻度桑菲利波综合征：多动和行为障碍的另一个原因。

Med J Aust. 1987 Nov 2;147(9):450-1.

引用本文的文献

D1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders.D1多巴胺受体拮抗剂作为治疗溶酶体贮积症中自闭症样行为的一种新治疗策略。

Mol Psychiatry. 2025 Jan 26. doi: 10.1038/s41380-025-02904-6.

Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventions.儿童期痴呆的行为和心理症状：两例心理社会干预案例

Palliat Care Soc Pract. 2024 Sep 6;18:26323524241273492. doi: 10.1177/26323524241273492. eCollection 2024.

The significance of triple-capsid-mutant AAV8 for treatment of Sanfilippo Syndrome Type B.三衣壳突变体AAV8对治疗B型Sanfilippo综合征的意义。

Arch Stem Cell Ther. 2022;3(1):11-17. doi: 10.46439/stemcell.3.013.

Economic Burden of Sanfilippo Syndrome in the United States.美国桑菲利波综合征的经济负担

Res Sq. 2023 Nov 1:rs.3.rs-3001450. doi: 10.21203/rs.3.rs-3001450/v1.

Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA.III型黏多糖贮积症A亚型小鼠模型中的神经认知测试

Mol Genet Metab Rep. 2023 Jun 10;36:100985. doi: 10.1016/j.ymgmr.2023.100985. eCollection 2023 Sep.

Gut dysmotility in children with neurological impairment: the nutritional management.神经功能障碍儿童的肠道动力障碍：营养管理

Front Neurol. 2023 May 5;14:1200101. doi: 10.3389/fneur.2023.1200101. eCollection 2023.

Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil.巴西黏多糖贮积症III型（Sanfilippo综合征）患者的神经、神经行为和放射学改变

Front Neurol. 2022 Nov 17;13:968297. doi: 10.3389/fneur.2022.968297. eCollection 2022.

Sanfilippo syndrome: consensus guidelines for clinical care.黏多糖贮积症 Sanfilippo 综合征：临床护理共识指南。

Orphanet J Rare Dis. 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6.

Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale.神经退行性疾病患儿的生活质量和症状负担：使用 PedsQL 和 SProND，一种新的基于症状的量表。

Orphanet J Rare Dis. 2022 Sep 2;17(1):334. doi: 10.1186/s13023-022-02485-5.

Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome.护理人员对桑菲利波综合征有意义且相关的临床结局评估的评价

J Patient Rep Outcomes. 2022 Apr 25;6(1):40. doi: 10.1186/s41687-022-00447-w.

本文引用的文献

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.

The mucopolysaccharidoses and anaesthesia: a report of clinical experience.

Can J Anaesth. 1988 Jan;35(1):67-73. doi: 10.1007/BF03010548.

The mucopolysaccharidoses.黏多糖贮积症

Aust Paediatr J. 1987 Dec;23(6):329-34. doi: 10.1111/j.1440-1754.1987.tb00284.x.

Follow-up on seven adult patients with mild Sanfilippo B-disease.对7例轻度桑菲利波B病成年患者的随访。

Am J Med Genet. 1987 Sep;28(1):125-9. doi: 10.1002/ajmg.1320280118.

Bone marrow transplantation for metabolic diseases with severe neurological symptoms.针对伴有严重神经症状的代谢性疾病进行的骨髓移植。

Bone Marrow Transplant. 1991;7 Suppl 2:71.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验