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Silvio Ferraris

University of Turin

19

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285

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HDR syndrome: A novel “de novo” mutation in GATA3 gene

2009 American Journal of Medical Genetics Part A
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Impact of Neonatal Protein Metabolism and Nutrition on Screening for Phenylketonuria

2008 Journal of Pediatric Gastroenterology and Nutrition
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Newborn feeding and screening for phenylketonuria.

2007 Acta Paediatrica
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Dihydropteridine Reductase De¢ciency in Man: From Biology toTreatment

2004
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Dihydropteridine reductase deficiency in man: from biology to treatment.

2004 Medicinal Research Reviews
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Hair anomalies as a sign of mitochondrial disease

2003 European Journal of Pediatrics
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Malformations following methimazole exposure in utero: An open issue

2003 Birth Defects Research Part A-clinical and Molecular Teratology
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Citations (36)
Goldenhar anomaly in one of triplets derived from in vitro fertilization

1999 American Journal of Medical Genetics
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Different strategies in the treatment of dihydropteridine reductase deficiency

1996 Pteridines
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Deprenyl in 6-Pyruvoyl Tetrahydropterin Synthase Deficiency

1995 Pteridines
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Citations (4)