A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations.

Ghirri, Paolo; Vuerich, Marco; Ferdinandusse, Sacha; Waterham, Hans R; Guzzetta, Andrea; Bianchi, Maria C; Boldrini, Antonio; Wanders, Ronald J A

Ghirri, Paolo; Vuerich, Marco; Ferdinandusse, Sacha; Waterham, Hans R; Guzzetta, Andrea; Bianchi, Maria C; Boldrini, Antonio; Wanders, Ronald J A.

Affiliation

Ghirri P; Neonatology Unit, Department of Neuroradiology, S. Chiara Hospital, AOUP, Pisa, Italy. pghirri@med.unipi.it

Pediatr Int ; 53(4): 583-7, 2011 Aug.

Article in En | MEDLINE | ID: mdl-21851493

Subject(s)

17-Hydroxysteroid Dehydrogenases/deficiency; Hydro-Lyases/deficiency; Peroxisomal Disorders/diagnosis; 17-Hydroxysteroid Dehydrogenases/genetics; Fatal Outcome; Female; Humans; Hydro-Lyases/genetics; Infant, Newborn; Peroxisomal Disorders/genetics; Peroxisomal Disorders/metabolism; Peroxisomal Multifunctional Protein-2

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Peroxisomal Disorders / Hydro-Lyases / 17-Hydroxysteroid Dehydrogenases Limits: Female / Humans / Newborn Language: En Journal: Pediatr Int Journal subject: PEDIATRIA Year: 2011 Document type: Article Affiliation country: Italy Country of publication: Australia

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