青少年GM1神经节苷脂贮积症：临床、病理、化学及酶学研究 - Suppr

Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies.

作者信息

O'Brien J S, Ho M W, Veath M L, Wilson J F, Myers G, Opitz J M, ZuRhein G M, Spranger J W, Hartmann H A, Haneberg B, Grosse F R

出版信息

Clin Genet. 1972;3(6):411-34. doi: 10.1111/j.1399-0004.1972.tb01476.x.

DOI:10.1111/j.1399-0004.1972.tb01476.x

PMID:4650864

Abstract

摘要

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Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies.青少年GM1神经节苷脂贮积症：临床、病理、化学及酶学研究

Clin Genet. 1972;3(6):411-34. doi: 10.1111/j.1399-0004.1972.tb01476.x.

Gm1-gangliosidosis and juvenile cerebral lipidosis. Clinical, histochemical, and chemical study.GM1神经节苷脂贮积症与青少年脑脂质沉积症。临床、组织化学及化学研究。

Arch Neurol. 1971 Jun;24(6):529-37. doi: 10.1001/archneur.1971.00480360063008.

[Clinical, pathological, and biochemical studies in a case of infantile generalized gangliosidosis (G M1 -mucolipidosis]].一例婴儿全身性神经节苷脂病（GM1-粘脂贮积症）的临床、病理及生化研究

Z Kinderheilkd. 1972;112(1):23-42.

Infantile GM1 gangliosidosis. Histochemical, ultrastructural and biochemical studies.婴儿GM1神经节苷脂贮积症。组织化学、超微结构及生物化学研究。

Helv Paediatr Acta. 1971 Jun;26(2):192-209.

Juvenile GM2 gangliosidosis. Biochemical and ultrastructural studies on a new variant of Tay-Sachs disease.青少年GM2神经节苷脂沉积症。关于一种新的泰-萨克斯病变体的生化及超微结构研究。

Arch Neurol. 1971 Jul;25(1):14-22. doi: 10.1001/archneur.1971.00490010024003.

GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.无软骨发育不良或内脏肿大的GM1神经节苷脂贮积症。伴有神经节苷脂贮积症和硫酸角质素过度排泄的β-半乳糖苷酶缺乏症。

Neurology. 1970 Jan;20(1):23-44. doi: 10.1212/wnl.20.1.23.

Leukocyte beta-galactosidase activity in the diagnosis of generalized GM 1 gangliosidosis.

Pediatrics. 1972 Mar;49(3):352-61.

[Generalized GM 1 gangliosidosis: ultrastructure and differential diagnostic importance of storage lymphocytes and bone marrow cells].

Padiatr Padol. 1973;8(3):272-83.

Enzymatic study of GM-1 gangliosidosis.GM-1神经节苷脂贮积症的酶学研究

Clin Chim Acta. 1975 Mar 24;59(3):283-90. doi: 10.1016/0009-8981(75)90003-0.

Altered levels of tissue gangliosides and glycoproteins in the infantile form of GM1-gangliosidosis.

Clin Chim Acta. 1974 Dec 17;57(3):301-6. doi: 10.1016/0009-8981(74)90411-2.

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Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives.黏多糖贮积症的诊断：如何避免假阳性和假阴性

Indian J Pediatr. 2004 Jan;71(1):29-32. doi: 10.1007/BF02725652.

GM1 gangliosidosis, type 2: ocular clinicopathologic correlation.2型GM1神经节苷脂贮积症：眼临床病理相关性

Graefes Arch Clin Exp Ophthalmol. 1984;222(2):51-62. doi: 10.1007/BF02150632.

GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant.皮肤成纤维细胞培养中的GM1神经节苷脂贮积症：1型和2型之间的酶学差异及对第三种变异型的观察

Am J Hum Genet. 1974 Sep;26(5):563-77.

An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.一名患有GM1神经节苷脂贮积症的患者体内，一种具有改变催化特性的β-半乳糖苷酶电泳变体。

Proc Natl Acad Sci U S A. 1975 Jan;72(1):240-4. doi: 10.1073/pnas.72.1.240.

A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies.一例与部分β-半乳糖苷酶缺陷相关的神经氨酸酶缺乏症。临床、生化及放射学研究。

Eur J Pediatr. 1979 Apr 3;130(4):239-49. doi: 10.1007/BF00441360.

beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.青少年及成年患者的β-半乳糖苷酶缺乏症。6例日本病例报告及文献综述。

Hum Genet. 1977 Apr 15;36(2):219-29. doi: 10.1007/BF00273261.

Generalized gangliosidosis type II (juvenile GM1 gangliosidosis). A pathological, histochemical and ultrastructural study.II型全身性神经节苷脂沉积症（青少年GM1神经节苷脂沉积症）。一项病理学、组织化学及超微结构研究。

Z Kinderheilkd. 1975 Sep 11;120(3):151-80. doi: 10.1007/BF00439006.

Biochemistry and genetics of gangliosidoses.神经节苷脂贮积症的生物化学与遗传学

Hum Genet. 1979;50(2):107-43. doi: 10.1007/BF00390234.

A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological, and cell genetic studies.一名患有GM1-β-半乳糖苷酶缺乏症非典型表现的两岁患者：生化、免疫学及细胞遗传学研究

Hum Genet. 1979 Jan 19;46(1):11-9. doi: 10.1007/BF00278897.

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Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies.

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