Short Communication

Journal of Inherited Metabolic Disease

, Volume 18, Issue 2, pp 211-214

First online:

Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

  • M. P. SperandeoAffiliated withDepartment of Pediatrics, Federico II University
  • , M. PanicoAffiliated withDepartment of Pediatrics, Federico II University
  • , A. PepeAffiliated withDepartment of Pediatrics, Federico II University
  • , M. CanditoAffiliated withLaboratoire de Biochimie, Hôpital Pasteur 30
  • , R. de FranchisAffiliated withDepartment of Pediatrics, University of Colorado School of Medicine
  • , J. P. KrausAffiliated withDepartment of Pediatrics, University of Colorado School of Medicine
  • , G. AndriaAffiliated withDepartment of Pediatrics, Federico II University
  • , G. SebastioAffiliated withDepartment of Pediatrics, Federico II University

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