Phénylcétonurie (French Wikipedia)

Analysis of information sources in references of the Wikipedia article "Phénylcétonurie" in French language version.

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bmj.com

jmg.bmj.com

Guldberg P, Henriksen KF, Sipila I, Guttler F, de la Chapelle A, Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland, J Med Genet, 1995;32:976-978

liebertonline.com

Rebuffat A, Harding CO, Ding Z, Thony B, Comparison of AAV pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria, Hum Gene Ther, 2010;21:463-477

nejm.org

Lenke RR, Levy HL, Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies, N Engl J Med, 1980;303:1202-1208

nih.gov

ncbi.nlm.nih.gov

Anderson PJ, Wood SJ, Francis DE et Als. Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?, Dev Neuropsychol, 2007;32:645-668
Hoeksma M, Reijngoud DJ, Pruim J et Als. Phenylketonuria: high plasma phenylalanine decreases cerebral protein synthesis, Mol Genet Metab, 2009;96:177-182
Ozalp I, Coskun T, Tokatli A et Als. Newborn PKU screening in Turkey: at present and organization for future, Turk J Pediatr, 2001;43:97-101
Pangkanon S, Charoensiriwatana W, Janejai N, Boonwanich W, Chaisomchit S, Detection of phenylketonuria by the newborn screening program in Thailand, Southeast Asian J Trop Med Public Health, 2009;40:525-529
Waisbren SE, Noel K, Fahrbach K et Als. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis, Mol Genet Metab, 2007;92:63-70
Albrecht J, Garbade SF, Burgard P, Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis, Neurosci Biobehav Rev, 2009;33:414-421

springerlink.com

Loeber JG, Neonatal screening in Europe; the situation in 2004, J Inherit Metab Dis, 2007;30:430-438
Matalon R, Michals-Matalon K, Bhatia G et Als. Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine, J Inherit Metab Dis, 2007;30:153-158

thelancet.com

Blau N, van Spronsen FJ, Levy HL, Phenylketonuria, Lancet, 2010;376:1417-1427

wiley.com

onlinelibrary.wiley.com

Thöny B, Blau N, Mutations in the BH4-metabolizing genes GTP cyclohydroalse I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase genes, Hum Mutat, 2006;27:870-878
Scriver CR, The PAH gene, phenylketonuria, and a paradigm shift, Hum Mutat, 2007;28:831-845
Zschocke J, Phenylketonuria mutations in Europe, Hum Mutat, 2003;21:345-356