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Items: 1 to 20 of 88

1.

Delayed diagnosis of phenylketonuria - a case report of two siblings.

Narayanan D, Barski R, Henderson MJ, Luvai A, Chandrajay D, Stainforth C, Bradley J, Rogozinski H, Sharma R.

Ann Clin Biochem. 2014 May;51(Pt 3):406-8. doi: 10.1177/0004563213503818. Epub 2013 Oct 4.

PMID:
24097808
2.

Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.

Karam PE, Habbal MZ, Mikati MA, Zaatari GE, Cortas NK, Daher RT.

Clin Biochem. 2013 Dec;46(18):1787-92. doi: 10.1016/j.clinbiochem.2013.08.009. Epub 2013 Aug 28.

PMID:
23994778
3.

Undiagnosed maternal phenylketonuria: own clinical experience and literature review.

Bouchlariotou S, Tsikouras P, Maroulis G.

J Matern Fetal Neonatal Med. 2009 Oct;22(10):943-8. doi: 10.1080/14767050902994697. Review.

PMID:
19557660
4.

Attitudes and psychosocial adjustment of unaffected siblings of patients with phenylketonuria.

Pho LT, Zinberg RE, Hopkins-Boomer TA, Wallenstein S, McGovern MM.

Am J Med Genet A. 2004 Apr 15;126A(2):156-60.

PMID:
15057980
5.

Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.

Moyle JJ, Fox AM, Arthur M, Bynevelt M, Burnett JR.

Neuropsychol Rev. 2007 Jun;17(2):91-101. Epub 2007 Apr 5.

PMID:
17410469
6.

A GC/MS-based metabolomic approach for reliable diagnosis of phenylketonuria.

Xiong X, Sheng X, Liu D, Zeng T, Peng Y, Wang Y.

Anal Bioanal Chem. 2015 Nov;407(29):8825-33. doi: 10.1007/s00216-015-9041-3. Epub 2015 Sep 26.

PMID:
26410738
8.

Detection of phenylketonuria by the newborn screening program in Thailand.

Pangkanon S, Charoensiriwatana W, Janejai N, Boonwanich W, Chaisomchit S.

Southeast Asian J Trop Med Public Health. 2009 May;40(3):525-9.

PMID:
19842439
9.

Phenylketonuria in South Africa. A report on the status quo.

Hitzeroth HW, Niehaus CE, Brill DC.

S Afr Med J. 1995 Jan;85(1):33-6.

PMID:
7784915
10.

Timing is everything: executive functions in children exposed to elevated levels of phenylalanine.

Antshel KM, Waisbren SE.

Neuropsychology. 2003 Jul;17(3):458-68.

PMID:
12959512
11.

Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico.

Vela-Amieva M, Ibarra-González I, Fernández-Lainez C, Monroy-Santoyo S, Guillén-López S, Belmont-Martínez L, Hernández-Montiel A.

J Med Screen. 2011;18(3):115-20. doi: 10.1258/jms.2011.011028.

PMID:
22045819
12.

[Delayed diagnosis of phenylketonuria as the cause of mental retardation in an adolescent].

Villaverde R, Escribano JB, Salmerón P, Tortosa D, Meca J, Fernández-Barreiro A.

Rev Neurol. 1997 Dec;25(148):1911-6. Spanish.

PMID:
9528029
13.

A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening.

Hsiao KJ, Chen CH, Chiu PC, Huang SC, Wuu KD.

Eur J Pediatr. 1986 Oct;145(5):409-12.

PMID:
3792388
14.

Hereditary fructose intolerance in a patient with phenylketonuria.

Coşkun T, Ozalp I, Tekinalp G.

Turk J Pediatr. 1991 Jul-Sep;33(3):181-4.

PMID:
1792698
15.

Intake and blood levels of fatty acids in treated patients with phenylketonuria.

Acosta PB, Yannicelli S, Singh R, Eisas LJ 2nd, Kennedy MJ, Bernstein L, Rohr F, Trahms C, Koch R, Breck J.

J Pediatr Gastroenterol Nutr. 2001 Sep;33(3):253-9.

PMID:
11593118
16.

[Evaluation of the usefulness for neonatal mass screening in light of 35 years personal experience].

Bozkowa K, Cabalska B, Radomyska B, Ołtarzewski M, Lenartowska I.

Med Wieku Rozwoj. 1999 Oct-Dec;3(4):529-59. Polish.

PMID:
10910678
17.
18.

Newborn mass screening and molecular genetics of phenylketonuria in east Asia.

Okano Y, Isshiki G.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:123-9.

PMID:
8629090
19.

Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients.

Fan GX, Qing LX, Jun Y, Mei Z.

Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:63-5.

PMID:
11400788
20.

Newborn screening for inborn errors of metabolism: a systematic review.

Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH.

Health Technol Assess. 1997;1(11):i-iv, 1-95. Review.

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