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Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.
Tonin, Rodolfo; Caciotti, Anna; Funghini, Silvia; la Marca, Giancarlo; Pasquini, Elisabetta; Cayton, Erica; Mooney, Sean D; Guerrini, Renzo; Morrone, Amelia.
Affiliation
  • Tonin R; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy.
  • Caciotti A; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy.
  • Funghini S; Newborn Screening Biochemistry and Pharmacology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy.
  • la Marca G; Newborn Screening Biochemistry and Pharmacology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy.
  • Pasquini E; Metabolic and Muscular Unit, A. Meyer Children's Hospital, Florence, Italy.
  • Cayton E; Buck Institute for Research on Aging, Novato, CA, USA.
  • Mooney SD; Buck Institute for Research on Aging, Novato, CA, USA.
  • Guerrini R; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy.
  • Morrone A; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy. Electronic address: a.morrone@meyer.it.
Clin Chim Acta ; 445: 70-2, 2015 May 20.
Article in En | MEDLINE | ID: mdl-25795614
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biotinidase Deficiency / Biotinidase / Mosaicism / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Newborn Language: En Journal: Clin Chim Acta Year: 2015 Document type: Article Affiliation country: Italia Country of publication: Países Bajos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biotinidase Deficiency / Biotinidase / Mosaicism / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Newborn Language: En Journal: Clin Chim Acta Year: 2015 Document type: Article Affiliation country: Italia Country of publication: Países Bajos