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Coffin-siris syndrome with normal plasma biotinidase activity

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References

  1. Burlina AB, Sherwood WG, Zachello F (1990) Partial biotinidase deficiency associated with Coffin-Siris syndrome. Eur J Pediatr 149:628–629

    PubMed  Google Scholar 

  2. Gorlin RJ, Cohen MM, Levin SL (1990) Syndromes of the head and the neek, 3rd edn. Oxford University Press, Oxford

    Google Scholar 

  3. Koivusalo M, Pispa J (1963) Biotinidase activity in animal tissues. Acta Physiol Scand 58:13–19

    PubMed  Google Scholar 

  4. Munnich A, Saudubray JM, Cotisson A, Coudé FX, Ogier H, Charpentier C, Marsac C, Carré G, Bourgeay-Causse M, Frézal J (1981) Biotin dependant multiple carboxylase deficiency presenting as a congenital lactic acidosis. Eur J Pediatr 137:203–206

    PubMed  Google Scholar 

  5. Qazi QH, Heckman LS, Markouisos D, Verma RS (1990) The Coffin-Siris syndrome. J Med Genet 27:333–336

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Service de Pédiatrie, CHU de Poitiers, BP 577, F-86021, Poitiers Cedex, France

    D. Bonneau, M. Berthier & D. Oriot

  2. Unité de Recherche de Génétique Médicale (INSERM U12), Hôptial de enfants malades, F-75730, Paris, Cedex 15, France

    A. Munnich

  3. Department of Paediatrics, University of Padua, I-35128, Padova, Italy

    A. B. Burlina

  4. Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas, USA

    W. G. Sherwood

Authors
  1. D. Bonneau
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  2. M. Berthier
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  3. D. Oriot
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  4. A. Munnich
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  5. A. B. Burlina
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  6. W. G. Sherwood
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Bonneau, D., Berthier, M., Oriot, D. et al. Coffin-siris syndrome with normal plasma biotinidase activity. Eur J Pediatr 150, 687 (1991). https://doi.org/10.1007/BF02072639

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  • DOI: https://doi.org/10.1007/BF02072639

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