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[Generalized, Norman-Landing type, GM1 gangliosidosis: study of a case diagnosed during the life of the patient].

作者信息

Seringe P, Plainfosse B, Lautmann F, Lorilloux J, Calamy G, Berry J P, Watchi J M

出版信息

Ann Pediatr (Paris). 1968 Mar 2;15(3):165-84.

PMID:5744290
Abstract
摘要

相似文献

1
[Generalized, Norman-Landing type, GM1 gangliosidosis: study of a case diagnosed during the life of the patient].
Ann Pediatr (Paris). 1968 Mar 2;15(3):165-84.
2
[Early diagnosis and place in the body of lipidosis, of the generalized Norman-Landing, GM1, type, gangliosidosis].
Bull Mem Soc Med Hop Paris. 1968 Jan-Feb;119(2):179-96.
3
[A case of Gangliosidosis GM1, type I. Clinical, histochemical and chemical study].[1型GM1神经节苷脂贮积症1例。临床、组织化学及化学研究]
Pathologica. 1971 Jan-Feb;63(915):17-36.
4
[Ocular manifestations of generalized gangliosidosis including the MG 1 (Norman-Landing disease)].[全身性神经节苷脂贮积症的眼部表现，包括MG 1型（诺曼-兰丁病）]
Arch Ophtalmol Rev Gen Ophtalmol. 1970 Feb;30(2):113-28.
5
Intrauterine detection of GM1 gangliosidosis, type 2.宫内检测2型GM1神经节苷脂贮积症
Pediatrics. 1973 Oct;52(4):521-4.
6
Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis.人尿中的β-D-半乳糖苷酶：全身性神经节苷脂沉积症中的缺乏。
J Lab Clin Med. 1969 Nov;74(5):725-31.
7
[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.
8
[Cutaneous manifestations during a generalized, landing type of gangliosidosis with GM 1].[全身性、着陆型GM1神经节苷脂沉积症的皮肤表现]
Bull Soc Fr Dermatol Syphiligr. 1969;76(4):631-3.
9
[Fine structure of the human liver in generalized gangliosidosis GM1].
Beitr Pathol Anat. 1970;140(2):194-211.
10
Beta-galactosidase in tissue culture derived from human skin and bone marrow. Enzyme defect in GM1 gangliosidosis.源自人皮肤和骨髓的组织培养中的β-半乳糖苷酶。GM1神经节苷脂贮积症中的酶缺陷。
Pediatr Res. 1969 Nov;3(6):532-7. doi: 10.1203/00006450-196911000-00002.

引用本文的文献

1
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.
2
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.
3
Ultrastructural study of the vacuoles in the peripheral lymphocytes in juvenile amaurotic idiocy. Juvenile form of generalized ceroid lipofuscinosis.
青少年黑蒙性白痴外周淋巴细胞中液泡的超微结构研究。全身性类蜡样脂褐质沉积症的青少年型。
Acta Neuropathol. 1977 May 16;38(2):137-42. doi: 10.1007/BF00688560.
4
GM1-generalized gangliosidosis variant with cardiomegaly.
Postgrad Med J. 1976 Mar;52(605):159-65. doi: 10.1136/pgmj.52.605.159.
5
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.