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Items: 1 to 20 of 150

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2.

Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies.

Ayling JE, Bailey SW, Boerth SR, Giugliani R, Braegger CP, Thöny B, Blau N.

Mol Genet Metab. 2000 Jul;70(3):179-88.

PMID:
10924272
3.

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.

4.

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

Thöny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schlüter T, Germann R, Heidenreich RA, Duran M, de Klerk JB, Ayling JE, Blau N.

Hum Genet. 1998 Aug;103(2):162-7.

PMID:
9760199
7.
9.

Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?

Hevel JM, Stewart JA, Gross KL, Ayling JE.

Mol Genet Metab. 2006 May;88(1):38-46. Epub 2006 Jan 19.

PMID:
16423549
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Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.

Adler C, Ghisla S, Rebrin I, Heizmann CW, Blau N, Curtius HC.

J Inherit Metab Dis. 1992;15(3):405-8. No abstract available.

PMID:
1405480
17.

Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having Type I diabetes.

Møller AM, Dalgaard LT, Pociot F, Nerup J, Hansen T, Pedersen O.

Diabetologia. 1998 Dec;41(12):1528-31.

PMID:
9867222
19.

Stereospecificity and catalytic function of histidine residues in 4a-hydroxy-tetrahydropterin dehydratase/DCoH.

Rebrin I, Thöny B, Bailey SW, Ayling JE.

Biochemistry. 1998 Aug 11;37(32):11246-54.

PMID:
9698371
20.

Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia.

Johnen G, Kowlessur D, Citron BA, Kaufman S.

Proc Natl Acad Sci U S A. 1995 Dec 19;92(26):12384-8. Erratum in: Proc Natl Acad Sci U S A 1996 Apr 30;93(9):4519.

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