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Volumn 257, Issue 2, 2010, Pages 302-304

Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

EID: 77949266071     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5358-1     Document Type: Letter
Times cited : (12)

References (8)
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    • V Abadie J Berthelot F Feillet N Maurin A Mercier H Ogier de Baulny L de Parscau Association française pour le dépistage et la prévention des handicaps de l'enfant (AFDPHE) 2005 Management of phenylketonuria and hyperphenylalaninemia; the French guidelines Arch Pediatr 12 594 601 10.1016/j.arcped.2005.02.004 1:STN:280:DC%2BD2M3ks1CrtA%3D%3D 15885553 (Pubitemid 40693335)
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  • 2
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    • Stability of blood phenylalanine levels and IQ in children with phenylketonuria
    • 10.1016/j.ymgme.2008.06.014 1:CAS:528:DC%2BD1cXhtFCgtbnM 18703366
    • V Anastasoaie L Kurzius P Forbes S Waisbren 2008 Stability of blood phenylalanine levels and IQ in children with phenylketonuria Mol Genet Metab 95 17 20 10.1016/j.ymgme.2008.06.014 1:CAS:528:DC%2BD1cXhtFCgtbnM 18703366
    • (2008) Mol Genet Metab , vol.95 , pp. 17-20
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  • 3
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    • The discovery of phenylketonuria: The story of a young couple, two retarded children, and a scientist
    • 10.1542/peds.105.1.89 1:STN:280:DC%2BD3c%2FosFalsw%3D%3D 10617710
    • SA Centerwall WR Centerwall 2000 The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist Pediatrics 105 89 103 10.1542/peds.105.1.89 1:STN:280:DC%2BD3c%2FosFalsw%3D%3D 10617710
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  • 4
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    • Trimethylaminuria associated with seizures and behavioural disturbance: A case report
    • DOI 10.1016/S1059-1311(97)80080-5
    • HW McConnell SC Mitchell RL Smith M Brewster 1997 Trimethylaminuria associated with seizures and behavioural disturbance: a case report Seizure 6 317 321 10.1016/S1059-1311(97)80080-5 1:STN:280:DyaK2svkvFOjug%3D%3D 9304724 (Pubitemid 27399782)
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  • 5
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    • Branched-chain ketoacyl dehydrogenase deficiency: Maple syrup disease
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    • DOI 10.1136/jnnp.71.6.795
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.