Titolo | Pubblicato in | Anno |
---|---|---|
Transient hyperphenylalaninemia due to heterozygous mutation in pyruvoyltetrahydropterin synthase (PTS) gene | JOURNAL OF INHERITED METABOLIC DISEASE | 2015 |
Optic neuropathy in an adult PKU patient during long term follow-up | JOURNAL OF INHERITED METABOLIC DISEASE | 2015 |
White matter abnormalities in early treated phenylketonuria: a retrospective longitudinal long term study | JOURNAL OF INHERITED METABOLIC DISEASE | 2015 |
The effects of tetrahydrobiopterin (BH4) treatment on cerebral metabolism in phenylketonuric mice | JOURNAL OF INHERITED METABOLIC DISEASE | 2015 |
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency | JOURNAL OF INHERITED METABOLIC DISEASE | 2015 |
The Spectrum of Early Movement Disorders in Congenital Defects of Biogenic Amine Metabolism | JOURNAL OF PEDIATRIC NEUROLOGY | 2015 |
© Università degli Studi di Roma "La Sapienza" - Piazzale Aldo Moro 5, 00185 Roma