Selected publications: Pinto A, MacDonald A, Cleto E, Almeida MF, Ramos PC, Rocha JC. A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management. Turk J Pediatr. 2017;59(2):189-192. doi: 10.24953/turkjped.2017.02.012. PubMed PMID: 29276873. Pena MJ, Almeida MF, van Dam E, Ahring K, Bélanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, MacDonald A, Robert M, Rocha JC. Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile. Orphanet J Rare Dis. 2015 Dec 22;10:162. doi: 10.1186/s13023-015-0378-7.
Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, Coutinho M, Ferreira R, Pacheco S, Laranjeira F, Ribeiro I, Fortuna AM, Lacerda L. Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. JIMD Rep. 2016;26:53-60. doi: 10.1007/8904_2015_487. Epub 2015 Aug 25.
Rocha JC, van Spronsen FJ, Almeida MF, Ramos E, Guimarães JT, Borges N. Early dietary treated patients with phenylketonuria can achieve normal growth and body composition. Mol Genet Metab. 2013;110 Suppl:S40-3. doi: 10.1016/j.ymgme.2013.10.009. Epub 2013 Oct 22.
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