Genotype-phenotype correlation in dihydropteridine reductase deficiency-Reference-Cited by-同舟云学术

Genotype-phenotype correlation in dihydropteridine reductase deficiency

Author:

de Sanctis L.¹,Alliaudi C.¹,Spada M.¹,Farrugia R.²,Cerone R.³,Biasucci G.⁴,Meli C.⁵,Zammarchi E.⁶,Coskun T.⁷,Blau N.⁸,Ponzone A.¹,Dianzani I.¹⁹

Affiliation:

1. ; Department of Pediatric Sciences; University of Torino; Italy

2. ; Department of Pathology, Biomedical Sciences; University of Malta; Malta

3. ; University Department of Pediatrics; G. Gaslini Institute; Genoa Italy

4. ; Ospedale Civile of Piacenza; Piacenza Italy

5. University Department of Pediatrics, Policlinico; Catania Italy

6. ; Department of Pediatrics; University of Florence; Italy

7. Pediatrics Metabolism and Nutrition; Children's Hospital; Ankara Turkey

8. ; Division of Clinical Chemistry; University Children's Hospital; Zurich Switzerland

9. ; Department of Medical Sciences; Eastern Piedmont University; Novara Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

Reference13 articles.

2. Tetrahydrobiopterin and inherited hyperphenylalaninaemia;Blau;Turk J Pediatr,1996

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