[Sialidosis due to alpha-2-6 neuraminidase deficiency: a heterogeneous group].
作者信息
Maroteaux P
出版信息
Arch Fr Pediatr. 1978 Oct;35(8):815-8.
PMID:747491
Abstract
摘要
相似文献
1
[Sialidosis due to alpha-2-6 neuraminidase deficiency: a heterogeneous group].因α-2-6神经氨酸酶缺乏所致的唾液酸沉积症：一组异质性疾病
Arch Fr Pediatr. 1978 Oct;35(8):815-8.
2
[Mucolipidosis type I. Sialidosis due to alpha-2-6-neuraminidase deficiency with neurological symptoms].[I型粘脂贮积症。因α-2-6-神经氨酸酶缺乏导致的伴有神经症状的唾液酸贮积症]
Arch Fr Pediatr. 1978 Mar;35(3):280-91.
3
[A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study].[一种伴有肾脏疾病的新型涎酸贮积症：肾性涎酸贮积症。I. 临床、放射学及疾病分类学研究]
Arch Fr Pediatr. 1978 Oct;35(8):819-29.
4
Sialidosis, a new type of inborn disease.
Curr Probl Clin Biochem. 1979(9):370-82.
5
Sialidosis (mucolipidosis I).唾液酸沉积症（黏脂贮积症I型）
Helv Paediatr Acta. 1977 Nov;32(4-5):391-400.
6
[Lysosomal enzyme defects].[溶酶体酶缺陷]
Monatsschr Kinderheilkd. 1983 Jun;131(6):311-7.
7
Sialidosis: a review of human neuraminidase deficiency.唾液酸沉积症：人类神经氨酸酶缺乏症综述
Am J Hum Genet. 1979 Jan;31(1):1-18.
8
The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency.
Clin Genet. 1978 Jul;14(1):55-60. doi: 10.1111/j.1399-0004.1978.tb02061.x.
9
[Sialidosis].
Nihon Rinsho. 1986 Jul;44(7):1671-6.
10
Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.印度两名唾液酸沉积症患者神经氨酸酶-1（NEU1）基因的新突变。
Indian J Med Res. 2012 Dec;136(6):1048-50.
Zotero 插件