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[Landing's disease or early infantile amaurotic idiocy with generalized gangliosidosis of the GM 1 type].

作者信息

Sacrez R, Juif J G, Gigonnet J M, Gruner J E

出版信息

Pediatrie. 1967 Mar;22(2):143-62.

PMID:4973280
Abstract
摘要

相似文献

1
[Landing's disease or early infantile amaurotic idiocy with generalized gangliosidosis of the GM 1 type].[兰丁氏病或早期婴儿黑蒙性白痴伴GM1型全身性神经节苷脂沉积症]
Pediatrie. 1967 Mar;22(2):143-62.
2
Generalized gangliosidosis.全身性神经节苷脂贮积症
J Pediatr. 1969 Aug;75(2):167-86. doi: 10.1016/s0022-3476(69)80387-2.
3
[Ocular lesions in generalized gangliosidosis of the GM 1 type (Landing's disease)].
Bull Mem Soc Fr Ophtalmol. 1969;82:479-90.
4
[Amaurotic familial idiocy within the scope of GM2-gangliosidosis. Apropos of a case of Sandhoff's disease studied on the clinical, neuropathological, enzymatic, and genetic levels].[GM2神经节苷脂沉积症范围内的黑蒙性家族性白痴。关于一例在临床、神经病理学、酶学和遗传学水平上研究的桑德霍夫病病例]
J Genet Hum. 1974 Jun;22(2):139-83.
5
[Contribution to the clinical picture and genetics of amaurotic idiocy (late infantile and late forms) with special reference to diagnotic and differential diagnostic problems].
Nervenarzt. 1968 Jul;39(7):316-22.
6
Leukocyte beta-galactosidase activity in the diagnosis of generalized GM 1 gangliosidosis.
Pediatrics. 1972 Mar;49(3):352-61.
7
Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses).皮肤在晚期婴儿型和青少年型黑蒙性白痴（神经元蜡样脂褐质沉积症）中的累及情况。
Pathol Eur. 1974;9(4):263-72.
8
[An unusual form of amaurotic idiocy in infancy: Sandhoff's disease of GM 2 type 2 gangliosidosis].
Bull Mem Soc Fr Ophtalmol. 1976(87):238-42.
9
Generalized gangliosidosis: beta-galactosidase deficiency.全身性神经节苷脂沉积症：β-半乳糖苷酶缺乏症。
Science. 1968 May 31;160(3831):1002-4. doi: 10.1126/science.160.3831.1002.
10
GM1-ganglioside accumulation and beta-galactosidase deficiency in a case of GM1-gangliosidosis (Landing disease).GM1神经节苷脂贮积症（兰丁病）一例中的GM1神经节苷脂蓄积及β-半乳糖苷酶缺乏
Clin Chim Acta. 1968 Sep;21(3):421-5. doi: 10.1016/0009-8981(68)90071-5.

引用本文的文献

1
From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis.从黑蒙性白痴到生化定义的脂质贮积病：GM1神经节苷脂贮积症的首次鉴定。
Free Neuropathol. 2023 Aug 8;4:12. doi: 10.17879/freeneuropathology-2023-4845. eCollection 2023 Jan.
2
Ultrastructure of heart muscle in generalized gangliosidosis GM1.GM1型全身性神经节苷脂沉积症中心肌的超微结构
Z Kinderheilkd. 1971;110(2):104-14. doi: 10.1007/BF00442285.
3
[Infantile amaurotic idiocy and related forms as ganglioside storage diseases].
[婴儿黑蒙性白痴及相关类型作为神经节苷脂贮积病]
Naturwissenschaften. 1969 Jul;56(7):356-62. doi: 10.1007/BF00596925.
4
An improved method for the detection of beta-galactosidase activity, and its application to G MI-gangliosidosis and mucopolysaccharidosis.一种检测β-半乳糖苷酶活性的改进方法及其在GM1神经节苷脂贮积症和黏多糖贮积症中的应用。
Histochem J. 1974 Mar;6(2):211-8. doi: 10.1007/BF01011808.
5
The genetic mucolipidoses. Diagnosis and differential diagnosis.遗传性黏脂贮积症。诊断与鉴别诊断。
Humangenetik. 1970;9(2):113-39. doi: 10.1007/BF00278928.
6
Mucopolysaccharidoses and mucolipidoses.黏多糖贮积症和黏脂贮积症。
J Clin Pathol Suppl (R Coll Pathol). 1974;8:64-93.
7
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.GM1神经节苷脂贮积症（遗传性β-半乳糖苷酶缺乏症）：日本患者不同临床表型中四种突变的鉴定
Am J Hum Genet. 1991 Sep;49(3):566-74.
8
GM1-generalized gangliosidosis variant with cardiomegaly.
Postgrad Med J. 1976 Mar;52(605):159-65. doi: 10.1136/pgmj.52.605.159.
9
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.
10
Progress in investigations of sphingolipidoses.鞘脂类贮积病的研究进展
Acta Neuropathol. 1978 Aug 7;43(1-2):1-18. doi: 10.1007/BF00684994.