Literature DB >> 1915529

Coffin-Siris syndrome with normal plasma biotinidase activity.

D Bonneau, M Berthier, D Oriot, A Munnich.   

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Year:  1991        PMID： 1915529     DOI： 10.1007/bf02072639

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


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  4 in total

1.  Biotinidase activity in animal tissues.

Authors:  M KOIVUSALO; J PISPA
Journal:  Acta Physiol Scand       Date:  1963-05

2.  The Coffin-Siris syndrome.

Authors:  Q H Qazi; L S Heckman; D Markouizos; R S Verma
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

3.  Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.

Authors:  A Munnich; J M Saudubray; A Cotisson; F X Coudĕ; H Ogier; C Charpentier; C Marsac; G Carrĕ; M Bourgeay-Causse; J Frĕzal
Journal:  Eur J Pediatr       Date:  1981-10       Impact factor: 3.183

4.  Partial biotinidase deficiency associated with Coffin-Siris syndrome.

Authors:  A B Burlina; W G Sherwood; F Zacchello
Journal:  Eur J Pediatr       Date:  1990-06       Impact factor: 3.183
  4 in total

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