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Results: 13

1.

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.

Superti-Furga A, Steinmann B, Duc G, Gitzelmann R.

Eur J Pediatr. 1991 May;150(7):493-7.

PMID:
1915502
[PubMed - indexed for MEDLINE]
2.

Phenylketonuria: screening, treatment and maternal PKU.

Matalon R, Michals K.

Clin Biochem. 1991 Aug;24(4):337-42. Review.

PMID:
1959225
[PubMed - indexed for MEDLINE]
3.

Maternal phenylketonuria: a metabolic teratogen.

Levy HL, Ghavami M.

Teratology. 1996 Mar;53(3):176-84. Review.

PMID:
8761885
[PubMed - indexed for MEDLINE]
4.

The structural basis of phenylketonuria.

Erlandsen H, Stevens RC.

Mol Genet Metab. 1999 Oct;68(2):103-25. Review.

PMID:
10527663
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

[Genetical heterogeneity of phenylketonuria].

Annenkov GA.

Vopr Med Khim. 1982 May-Jun;28(3):62-70. Review. Russian.

PMID:
7048735
[PubMed - indexed for MEDLINE]
7.

[Advances in the studies of molecular heredity of phenylketonuria].

Zhang Z, He YS.

Yi Chuan. 2004 Sep;26(5):729-34. Review. Chinese.

PMID:
15640093
[PubMed - indexed for MEDLINE]
8.

Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.

G├╝ttler F, Guldberg P.

Acta Paediatr Suppl. 1994 Dec;407:49-56. Review.

PMID:
7766959
[PubMed - indexed for MEDLINE]
9.

The PAH gene, phenylketonuria, and a paradigm shift.

Scriver CR.

Hum Mutat. 2007 Sep;28(9):831-45. Review.

PMID:
17443661
[PubMed - indexed for MEDLINE]
10.

Diseases of phenylalanine metabolism.

Parker CE.

West J Med. 1979 Oct;131(4):285-97. Review.

PMID:
388868
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

[MAOB: a modifier gene in phenylketonuria?].

Ghozlan A, Munnich A.

Med Sci (Paris). 2004 Oct;20(10):929-32. Review. French.

PMID:
15461973
[PubMed - indexed for MEDLINE]
Free Article
12.

Progress toward cell-directed therapy for phenylketonuria.

Harding C.

Clin Genet. 2008 Aug;74(2):97-104. doi: 10.1111/j.1399-0004.2008.01027.x. Epub 2008 May 21. Review.

PMID:
18498375
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Neurological aspects of adult phenylketonuria.

Pietz J.

Curr Opin Neurol. 1998 Dec;11(6):679-88. Review.

PMID:
9870137
[PubMed - indexed for MEDLINE]

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