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Items: 1 to 20 of 90

1.

Three cases of untreated classical PKU: a report on cataracts and brain calcification.

Kawashima H, Kawano M, Masaki A, Sato T.

Am J Med Genet. 1988 Jan;29(1):89-93.

PMID:
3344778
2.
3.

Phenylketonuria does not cause cataracts.

Pitt DB, O'Day J.

Eur J Pediatr. 1991 Jul;150(9):661-4. Review.

PMID:
1915521
4.

Intracranial calcification in dihydropteridine reductase deficiency.

Coşkun T, Besim A, Ozalp I, Eryilmaz M.

Turk J Pediatr. 1990 Oct-Dec;32(4):259-64.

PMID:
2135679
5.

Blood-brain phenylalanine relationships in persons with phenylketonuria.

Koch R, Moats R, Guttler F, Guldberg P, Nelson M Jr.

Pediatrics. 2000 Nov;106(5):1093-6.

PMID:
11061780
6.

The natural history of untreated phenylketonuria over 20 years.

Pitt DB, Danks DM.

J Paediatr Child Health. 1991 Jun;27(3):189-90.

PMID:
1909536
7.

[An eighteen-year study on phenylketonuria].

Yu WM, Xu L, Li XW, He C, Shen M, Zhang ZX, Jin YY, Zhou ZS, Qiao F.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2003 Apr;25(2):218-22. Chinese.

PMID:
12905726
8.

Prefrontal cortex cognitive deficits in children treated early and continuously for PKU.

Diamond A, Prevor MB, Callender G, Druin DP.

Monogr Soc Res Child Dev. 1997;62(4):i-v, 1-208.

PMID:
9421921
9.

Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia.

Butler IJ, O'Flynn ME, Seifert WE Jr, Howell RR.

J Pediatr. 1981 May;98(5):729-33.

PMID:
6112253
10.

Eye findings in patients with phenylketonuria.

Zwaan J.

Arch Ophthalmol. 1983 Aug;101(8):1236-7.

PMID:
6882253
11.

Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Kleiman S, Vanagaite L, Bernstein J, Schwartz G, Brand N, Elitzur A, Woo SL, Shiloh Y.

J Med Genet. 1993 Apr;30(4):284-8.

12.

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
13.

Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment.

Chien YH, Chiang SC, Huang A, Lin JM, Chiu YN, Chou SP, Wang TR, Hwu WL.

Acta Paediatr Taiwan. 2004 Nov-Dec;45(6):320-3.

PMID:
15868846
14.

Cerebral subcortical calcification and hypoparathyroidism--a case report and review of the literature.

Moriwaki Y, Matsui K, Yamamoto T, Hada T, Higashino K.

Jpn J Med. 1985 Feb;24(1):53-6.

15.

Executive dysfunction in treated phenylketonuric patients.

Azadi B, Seddigh A, Tehrani-Doost M, Alaghband-Rad J, Ashrafi MR.

Eur Child Adolesc Psychiatry. 2009 Jun;18(6):360-8. doi: 10.1007/s00787-009-0738-8. Epub 2009 Feb 16.

PMID:
19221856
16.

Phenylketonuria with normal intelligence.

Primrose DA.

J Ment Defic Res. 1983 Dec;27 (Pt 4):239-46.

PMID:
6655682
17.

The impact of phenylketonuria on folate metabolism.

Lucock M, Yates Z, Hall K, Leeming R, Rylance G, MacDonald A, Green A.

Mol Genet Metab. 2002 Aug;76(4):305-12.

PMID:
12208135
18.

1H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU).

Sijens PE, Oudkerk M, Reijngoud DJ, Leenders KL, de Valk HW, van Spronsen FJ.

Eur Radiol. 2004 Oct;14(10):1895-900. Epub 2004 Aug 3.

PMID:
15378255
19.

Treatment of phenylketonuria-associated tremor with deep brain stimulation: case report.

Payne MS, Brown BL, Rao J, Payne BR.

Neurosurgery. 2005 Apr;56(4):E868; discussion E868.

PMID:
15792527
20.

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

Pérez-Dueñas B, Vilaseca MA, Mas A, Lambruschini N, Artuch R, Gómez L, Pineda J, Gutiérrez A, Mila M, Campistol J.

Clin Biochem. 2004 Dec;37(12):1083-90.

PMID:
15589814
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