Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
Defects of thiamine transport and metabolism
X-linked creatine transporter deficiency: clinical aspects and pathophysiology
Mitochondrial transporters of the SLC25 family and associated diseases: a review
Paediatric Rheumatology: Pathways into adulthood
Inborn Errors of Metabolism - Visions for Future Developments