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Gargoylism; a mucopolysaccharidosis.

作者信息

BRANTE G

出版信息

Scand J Clin Lab Invest. 1952;4(1):43-6. doi: 10.3109/00365515209060631.

DOI:10.3109/00365515209060631
PMID:14921802
Abstract
摘要

相似文献

1
Gargoylism; a mucopolysaccharidosis.承雷氏病；一种黏多糖贮积症。
Scand J Clin Lab Invest. 1952;4(1):43-6. doi: 10.3109/00365515209060631.
2
Chemical nature of the storage substance in gargoylism, Hurler-Pfaundler's disease.
AMA Arch Pathol. 1955 Sep;60(3):308-18.
3
The pathology and chemistry of a case of gargoylism.一例脂肪软骨营养不良症的病理学与化学研究
J Clin Pathol. 1956 Nov;9(4):305-15. doi: 10.1136/jcp.9.4.305.
4
THE GENETIC MUCOPOLYSACCHARIDOSES.
Circulation. 1965 Jan;31:1-4. doi: 10.1161/01.cir.31.1.1.
5
[Gargoylism (Hurler's syndrome) in an infant with second generation congenital syphilis].
Pediatr Pol. 1959 Dec;34:1547-53.
6
MUCOPOLYSACCHARIDOSIS: PAPER ELECTROPHORETIC AND INFRA-RED ANALYSIS OF THE URINE IN GARGOYLISM AND MORQUIO-ULLRICH'S DISEASE.
Arch Dis Child. 1963 Aug;38(200):364-74. doi: 10.1136/adc.38.200.364.
7
Gargoylism. II. Post-mortem findings in an earlier published case.
Ann Paediatr. 1955 Feb;184(2):101-7.
8
THE RADIOGRAPHIC MANIFESTATIONS OF THE HS-MUCOPOLYSACCHARIDOSIS OF SANFILIPPO, WITH DISCUSSION OF THIS CONDITION IN RELATION TO THE OTHER MUCOPOLYSACCHARIDOSES AND A CLASSIFICATION OF THESE FUNDAMENTALLY SIMILAR ENTITIES.
Ann Radiol (Paris). 1964;7:315-25.
9
MORQUIO-BRAILSFORD, A MUCOPOLYSACCHARIDOSIS.
Dan Med Bull. 1965 Jun;12:80-3.
10
[POLYDYSTROPHIC OLIGOPHRENIA (HEPARIN-SULFATE TYPE MUCOPOLYSACCHARIDOSIS)].
Presse Med (1893). 1964 Nov 25;72:2991-6.

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Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.黏多糖贮积症 II 型：百年的研究、诊断和治疗。
Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258.
2
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).II型粘多糖贮积症（MPS II；亨特综合征）的临床表现与治疗方法。
Expert Opin Orphan Drugs. 2017;5(4):295-307. doi: 10.1080/21678707.2017.1296761. Epub 2017 Mar 8.
3
Spinal involvement in mucopolysaccharidoses: a review.黏多糖贮积症的脊柱受累：综述
Childs Nerv Syst. 2015 Feb;31(2):203-12. doi: 10.1007/s00381-014-2578-1. Epub 2014 Oct 31.
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Mucopolysacccharidoses: From understanding to treatment, a century of discoveries.黏多糖贮积症：从认识到治疗，一个世纪的探索。
Genet Mol Biol. 2012 Dec;35(4 (suppl)):924-31. doi: 10.1590/s1415-47572012000600006. Epub 2012 Dec 18.
5
Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain. Filipin 可识别 GM1 神经节苷脂贮积症小鼠脑中的 GM1 和胆固醇。
J Lipid Res. 2011 Jul;52(7):1345-51. doi: 10.1194/jlr.M012633. Epub 2011 Apr 20.
6
Lipid composition of whole brain and cerebellum in Hurler syndrome (MPS IH) mice.黏多糖贮积症 IH 型（Hurler syndrome，MPS IH）小鼠全脑和小脑的脂质组成。
Neurochem Res. 2011 Sep;36(9):1669-76. doi: 10.1007/s11064-011-0400-y. Epub 2011 Jan 21.
7
Morquio-Ullrich's Disease: An Inborn Error of Metabolism?莫尔基奥 - 乌尔里希病：一种先天性代谢缺陷病？
Arch Dis Child. 1962 Oct;37(195):525-34. doi: 10.1136/adc.37.195.525.
8
TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE.黏多糖在胡勒-普凡德勒病中的组织储存
Proc Natl Acad Sci U S A. 1957 Sep 15;43(9):783-90. doi: 10.1073/pnas.43.9.783.
9
OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.黏多糖贮积症Ⅰ型中尿酸性黏多糖的出现情况。
Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443-6. doi: 10.1073/pnas.43.6.443.
10
[On neuraminic acid content of the eyes of various mammals. Part I. The cornea].[关于各种哺乳动物眼睛中的神经氨酸含量。第一部分。角膜]
Albrecht Von Graefes Arch Ophthalmol. 1960;162:34-47. doi: 10.1007/BF00681990.