承雷氏病；一种黏多糖贮积症。 - Suppr

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

Gargoylism; a mucopolysaccharidosis.

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

Chemical nature of the storage substance in gargoylism, Hurler-Pfaundler's disease.

AMA Arch Pathol. 1955 Sep;60(3):308-18.

The pathology and chemistry of a case of gargoylism.

J Clin Pathol. 1956 Nov;9(4):305-15. doi: 10.1136/jcp.9.4.305.

THE GENETIC MUCOPOLYSACCHARIDOSES.

Circulation. 1965 Jan;31:1-4. doi: 10.1161/01.cir.31.1.1.

[Gargoylism (Hurler's syndrome) in an infant with second generation congenital syphilis].

Pediatr Pol. 1959 Dec;34:1547-53.

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.

Gargoylism. II. Post-mortem findings in an earlier published case.

Ann Paediatr. 1955 Feb;184(2):101-7.

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.

MORQUIO-BRAILSFORD, A MUCOPOLYSACCHARIDOSIS.

Dan Med Bull. 1965 Jun;12:80-3.

[POLYDYSTROPHIC OLIGOPHRENIA (HEPARIN-SULFATE TYPE MUCOPOLYSACCHARIDOSIS)].

Presse Med (1893). 1964 Nov 25;72:2991-6.

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Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258.

Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).

Expert Opin Orphan Drugs. 2017;5(4):295-307. doi: 10.1080/21678707.2017.1296761. Epub 2017 Mar 8.

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Mucopolysacccharidoses: From understanding to treatment, a century of discoveries.

Genet Mol Biol. 2012 Dec;35(4 (suppl)):924-31. doi: 10.1590/s1415-47572012000600006. Epub 2012 Dec 18.

Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain.

J Lipid Res. 2011 Jul;52(7):1345-51. doi: 10.1194/jlr.M012633. Epub 2011 Apr 20.

Lipid composition of whole brain and cerebellum in Hurler syndrome (MPS IH) mice.

Neurochem Res. 2011 Sep;36(9):1669-76. doi: 10.1007/s11064-011-0400-y. Epub 2011 Jan 21.

Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

Arch Dis Child. 1962 Oct;37(195):525-34. doi: 10.1136/adc.37.195.525.

TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE.

Proc Natl Acad Sci U S A. 1957 Sep 15;43(9):783-90. doi: 10.1073/pnas.43.9.783.

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443-6. doi: 10.1073/pnas.43.6.443.

[On neuraminic acid content of the eyes of various mammals. Part I. The cornea].

Albrecht Von Graefes Arch Ophthalmol. 1960;162:34-47. doi: 10.1007/BF00681990.

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Gargoylism; a mucopolysaccharidosis.

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