• 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency: A Case Report And Literature Review 

      Yılmaz, Özlem; Kitchen, Steve; Pinto, Alex; Daly, Anne; Gerrard, Adam; Hoban, Rachel; Santa, Saikat; Sreekantam, Srividya; Frost, Kathryn; Pigott, Anna; MacDonald, Anita (Aran Ediciones, S L, 2018)
      Introduction: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. ...
    • Adjusting Diet With Sapropterin In Phenylketonuria: What Factors Should Be Considered? 

      MacDonald, Anita; Ahring, Kirsten; Dokoupil, Katharina; Gokmen-Ozel, Hulya; Lammardo, Anna Maria; Motzfeldt, Kristina; Robert, Martine; Rocha, Julio Cesar; van Rijn, Margreet; Belanger-Quintana, Amaya (CambrAdge Uni^ Press, 2011)
      The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet. Following this diet is challenging, and long-term adherence (and hence metabolic control) is commonly poor. Patients with PKU (usually, but ...
    • Med Diet 4.0: The Mediterranean Diet With Four Sustainable Benefits 

      Dernini, S.; Berry, E. M.; Serra-Majem, L.; La Vecchia, C.; Capone, R.; Medina, F. X.; Aranceta-Bartrina, J.; Belahsen, R.; Burlingame, B.; Calabrese, G.; Corella, D.; Donini, L. M.; Lairon, D.; Meybeck, A.; Pekcan, A. G.; Piscopo, S.; Yngve, A.; Trichopoulou, A. (Cambridge Univ Press, 2017)
      Objective: To characterize the multiple dimensions and benefits of the Mediterranean diet as a sustainable diet, in order to revitalize this intangible food heritage at the country level; and to develop a multidimensional ...
    • Weight Management In Phenylketonuria: What Should Be Monitored? 

      Rocha, Julio Cesar; van Rijn, Margreet; van Dam, Esther; Ahring, Kirsten; Belanger-Quintana, Amaya; Dokoupil, Katharina; Ozel, Hulya Gokmen; Lammardo, Anna Maria; Robert, Martine; Heidenborg, Carina; MacDonald, Anita (Karger, 2016)
      Background: Severe intellectual disability and growth impairment have been overcome by the success of early and continuous treatment of patients with phenylketonuria (PKU). However, there are some reports of obesity, ...