Literature DB >> 2373113

Partial biotinidase deficiency associated with Coffin-Siris syndrome.

A B Burlina1, W G Sherwood, F Zacchello.   

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.

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 2373113     DOI： 10.1007/bf02034749

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  5 in total

1.  The Coffin-Siris syndrome.

Authors:  A Schinzel
Journal:  Acta Paediatr Scand       Date:  1979-05

2.  Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.

Authors:  G Dunkel; C R Scriver; C L Clow; S Melançon; B Lemieux; A Grenier; C Laberge
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Partial deficiency of biotinidase activity.

Authors:  J Oizumi; K Hayakawa; K Iinuma; Y Odajima; Y Iikura
Journal:  J Pediatr       Date:  1987-05       Impact factor: 4.406

4.  Neonatal screening for biotinidase deficiency in north eastern Italy.

Authors:  A B Burlina; W G Sherwood; M V Marchioro; B D Bernardina; D Gaburro
Journal:  Eur J Pediatr       Date:  1988-04       Impact factor: 3.183

5.  [Coffin-Siris syndrome. Critical study of the literature apropos of a case].

Authors:  M F Foasso; M Hermier; B Descos; J P Collet; F Perron
Journal:  Pediatrie       Date:  1983-03
  5 in total
  1 in total

1.  Coffin-Siris syndrome with normal plasma biotinidase activity.

Authors:  D Bonneau; M Berthier; D Oriot; A Munnich
Journal:  Eur J Pediatr       Date:  1991-07       Impact factor: 3.183
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.