Partial biotinidase deficiency associated with Coffin-Siris syndrome.
作者信息
Burlina A B, Sherwood W G, Zacchello F
机构信息
Department of Paediatrics, University of Padova, Italy.
出版信息
Eur J Pediatr. 1990 Jun;149(9):628-9. doi: 10.1007/BF02034749.
PMID:2373113
Abstract
Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems. In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency.
摘要
相似文献
1
Partial biotinidase deficiency associated with Coffin-Siris syndrome.
Eur J Pediatr. 1990 Jun;149(9):628-9. doi: 10.1007/BF02034749.
2
The Coffin-Siris syndrome. A report of four cases and review of the literature.科芬-西里斯综合征。四例报告及文献复习。
Pediatr Radiol. 1981;11(1):35-8. doi: 10.1007/BF00972041.
3
Coffin-Siris syndrome with normal plasma biotinidase activity.血浆生物素酶活性正常的科芬-西里斯综合征
Eur J Pediatr. 1991 Jul;150(9):687. doi: 10.1007/BF02072639.
4
[Coffin-Siris syndrome in a 5-year-old girl].
Monatsschr Kinderheilkd. 1986 Sep;134(9):692-5.
5
The Coffin-Siris syndrome.科芬-西里斯综合征
Acta Paediatr Scand. 1979 May;68(3):449-52. doi: 10.1111/j.1651-2227.1979.tb05037.x.
6
The Coffin-Siris syndrome: a case report.
Helv Paediatr Acta. 1980 Sep;35(4):385-90.
7
[Coffin-Siris syndrome. Critical study of the literature apropos of a case].[科芬-西里斯综合征。关于一例病例的文献综述]
Pediatrie. 1983 Mar;38(2):111-7.
8
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.生物素酶缺乏症晚期表现为急性视力丧失和步态障碍。
Dev Med Child Neurol. 1997 Dec;39(12):830-1. doi: 10.1111/j.1469-8749.1997.tb07552.x.
9
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
Ophthalmic Paediatr Genet. 1987 Jun;8(2):125-9. doi: 10.3109/13816818709028528.
10
Variant of Coffin-Siris syndrome or previously undescribed syndrome?
Am J Med Genet. 1996 Sep 6;64(4):568-72. doi: 10.1002/(SICI)1096-8628(19960906)64:4<568::AID-AJMG8>3.0.CO;2-L.
引用本文的文献
1
Coffin-Siris syndrome with normal plasma biotinidase activity.血浆生物素酶活性正常的科芬-西里斯综合征
Eur J Pediatr. 1991 Jul;150(9):687. doi: 10.1007/BF02072639.
本文引用的文献
1
[Coffin-Siris syndrome. Critical study of the literature apropos of a case].[科芬-西里斯综合征。关于一例病例的文献综述]
Pediatrie. 1983 Mar;38(2):111-7.
2
Neonatal screening for biotinidase deficiency in north eastern Italy.
Eur J Pediatr. 1988 Apr;147(3):317-8. doi: 10.1007/BF00442706.
3
Partial deficiency of biotinidase activity.生物素酶活性部分缺乏
J Pediatr. 1987 May;110(5):818-9. doi: 10.1016/s0022-3476(87)80038-0.
4
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.新生儿中血清生物素酶完全和部分缺乏症的前瞻性确诊
J Inherit Metab Dis. 1989;12(2):131-8. doi: 10.1007/BF01800715.
5
The Coffin-Siris syndrome.科芬-西里斯综合征
Acta Paediatr Scand. 1979 May;68(3):449-52. doi: 10.1111/j.1651-2227.1979.tb05037.x.
Zotero 插件