Burlina A, Van Spronsen F.J. and Blau N. (2022). Disorders of phenylalanine and tetrahydrobiopterin metabolism. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. In: Blau N, Vici C.D, Ferreira C.R, Vianet-Saban C, Van Karnebeek C.D.M (eds) 331–353. https://doi.org/10.1007/978-3-030-67727-5_20
Tezel B, Dilli D, Bolat H, Sahman H, Ozbaş S, Acıcan D, Ertek M, Köse MR, Dilmen U (2014) The development and organization of newborn screening programs in Turkey. J Clin Lab Anal 28(1):63–69. https://doi.org/10.1002/jcla.21645
Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB et al (2014) Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab 112(2):87–122. https://doi.org/10.1016/j.ymgme.2014.02.013
Article CAS PubMed Google Scholar
Pietz J, Schmidt E, Matthis P, Kobialka B, Kutscha A, de Sonneville L (1993) EEGs in phenylketonuria. I: Follow-up to adulthood; II: Short-term diet-related changes in EEGs and cognitive function. Dev Med Child Neurol 35(1):54–64. https://doi.org/10.1111/j.1469-8749.1993.tb11552.x
Article CAS PubMed Google Scholar
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M et al (2017) The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis 12(1):162. https://doi.org/10.1186/s13023-017-0685-2
Article PubMed PubMed Central Google Scholar
Romani C, Manti F, Nardecchia F, Valentini F, Fallarino N, Carducci C, De Leo S, MacDonald A, Palermo L, Leuzzi V (2020) Cognitive outcomes and relationships with phenylalanine in phenylketonuria: a comparison between Italian and English adult samples. Nutrients 12(10):3033. https://doi.org/10.3390/nu12103033
Article CAS PubMed PubMed Central Google Scholar
Silva GK, Lamônica DA (2010) Performance of children with phenylketonuria in the Developmental Screening Test-Denver II. Pro-fono : revista de atualizacao cientifica 22(3):345–351. https://doi.org/10.1590/s0104-56872010000300031
Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA, American College of Medical Genetics and Genomics Therapeutics Committee (2014) Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Gen Med 16(2):188–200. https://doi.org/10.1038/gim.2013.157
Frankenburg WK, Dodds J, Archer P, Shapiro H, Bresnick B (1992) The Denver II: a major revision and restandardization of the Denver Developmental Screening Test. Pediatrics 89(1):91–97
Article CAS PubMed Google Scholar
Savasir I, Sezgin N, Erol N (2006) Handbook of Ankara developmental screening inventory. Ankara: Turkish Psychologists Association Publication, 4th edn. Rekmay Ltd., Sti, Ankara, Turkey
Van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M et al (2017) Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol 5(9):743–756. https://doi.org/10.1016/S2213-8587(16)30320-5
Jahja R, Huijbregts SC, de Sonneville LM, van der Meere JJ, van Spronsen FJ (2014) Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria. J Pediatr 164(4):895-899.e2. https://doi.org/10.1016/j.jpeds.2013.12.015
Article CAS PubMed Google Scholar
Gassió R, Artuch R, Vilaseca MA, Fusté E, Boix C, Sans A, Campistol J (2005) Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev Med Child Neurol 47(7):443–448. https://doi.org/10.1017/s0012162205000861
Weglage J, Ullrich K, Pietsch M, Fünders B, Güttler F, Harms E (1997) Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria. Pediatric Res 42(3):378–384. https://doi.org/10.1203/00006450-199709000-00020
Griffiths PV, Demellweek C, Fay N, Robinson PH, Davidson DC (2000) Wechsler subscale IQ and subtest profile in early treated phenylketonuria. Arch Dis Child 82(3):209–215. https://doi.org/10.1136/adc.82.3.209
Article CAS PubMed PubMed Central Google Scholar
Evinç SG, Pektaş E, Foto-Özdemir D, Yıldız Y, Karaboncuk Y, Bilginer-Gürbüz B, Dursun A, Tokatlı A, Coskun T, Öktem F, Sivri HS (2018) Cognitive and behavioral impairment in mild hyperphenylalaninemia. Turkish J Pediat 60(6):617–624. https://doi.org/10.24953/turkjped.2018.06.001
Bueno MA, González-Lamuño D, Delgado-Pecellín C, Aldámiz-Echevarría L, Pérez B, Desviat LR, Couce ML (2013) Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. J Hum Genet 58(5):279–284. https://doi.org/10.1038/jhg.2013.16
Article CAS PubMed Google Scholar
Gross PT, Berlow S, Schuett VE, Fariello RG (1981) EEG in phenylketonuria. Attempt to establish clinical importance of EEG changes. Arch Neurol 38(2):122–126. https://doi.org/10.1001/archneur.1981.00510020080013
Comments (0)