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Items: 1 to 20 of 127

1.

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

Scriver CR, Clow CL.

Annu Rev Genet. 1980;14:179-202. Review. No abstract available.

PMID:
7011173
2.
3.

Mendelian hyperphenylalaninemia.

Scriver CR, Kaufman S, Woo SL.

Annu Rev Genet. 1988;22:301-21. Review. No abstract available.

PMID:
3071251
4.

Enzymology of the phenylalanine-hydroxylating system.

Kaufman S.

Enzyme. 1987;38(1-4):286-95. Review.

PMID:
3326734
5.

[The phenylalanine hydroxylase system].

Dhondt JL, Farriaux JP.

Arch Fr Pediatr. 1983;40 Suppl 1:219-21. French. No abstract available.

PMID:
6882139
6.

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

G├╝ttler F.

Acta Paediatr Scand Suppl. 1980;280:1-80. Review. No abstract available.

PMID:
7006308
7.
8.

[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency].

Rey F, Munnich A, Lyonnet S, Rey J.

Arch Fr Pediatr. 1987;44 Suppl 1:639-42. Review. French. No abstract available.

PMID:
3329492
9.
10.

Diseases of phenylalanine metabolism.

Parker CE.

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

11.

Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.

Hyland K, Smith I, Leonard JV.

J Neurol Neurosurg Psychiatry. 1987 Feb;50(2):242. No abstract available.

12.

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, Meli C, Giovannini M, Riva E, et al.

Hum Mol Genet. 1993 Oct;2(10):1703-7.

PMID:
8268925
13.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K.

J Pediatr. 1999 Sep;135(3):375-8.

PMID:
10484807
14.

[Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia].

Nagao M.

Tanpakushitsu Kakusan Koso. 1998 May;43(6):762-9. Review. Japanese. No abstract available.

PMID:
9612070
15.

Genetic disorders involving recycling and formation of tetrahydrobiopterin.

Kaufman S.

Adv Pharmacol. 1998;42:41-3. No abstract available.

PMID:
9327841
16.

Phenylketonuria and its variants.

Kaufman S.

Adv Hum Genet. 1983;13:217-97. Review. No abstract available.

PMID:
6362361
17.

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD.

Am J Hum Genet. 1993 Sep;53(3):768-74.

18.

Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.

Kaufman S, Berlow S, Summer GK, Milstien S, Schulman JD, Orloff S, Spielberg S, Pueschel S.

N Engl J Med. 1978 Sep 28;299(13):673-9.

PMID:
683251
19.
20.

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.

Zschocke J, Graham CA, Stewart FJ, Carson DJ, Nevin NC.

Hum Mutat. 1994;4(2):114-8.

PMID:
7981714

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