Literature DB >> 117241

Malignant hyperphenylalaninaemia--current status (June 1977).

D M Danks, K Bartholomé, B E Clayton, H Curtius, H Gröbe, S Kaufman, R Leeming, W Pfleiderer, H Rembold, F Rey.   

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Year:  1978        PMID： 117241     DOI： 10.1007/bf01801843

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  10 in total

1.  Metabolism and metabolic roles of 6-polyhydroxyalkylpterins.

Authors:  H Rembold
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Phenylketonuria due to a deficiency of dihydropteridine reductase.

Authors:  S Kaufman; N A Holtzman; S Milstien; L J Butler; A Krumholz
Journal:  N Engl J Med       Date:  1975-10-16       Impact factor: 91.245

3.  [Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].

Authors:  F Rey; J P Harpey; R J Leeming; J A Blair; J Aicardi; J Rey
Journal:  Arch Fr Pediatr       Date:  1977 Aug-Sep

4.  Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients.

Authors:  B M Watson; P Schlesinger; R G Cotton
Journal:  Clin Chim Acta       Date:  1977-08-01       Impact factor: 3.786

5.  Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.

Authors:  K Bartholomé; D J Byrd; S Kaufman; S Milstien
Journal:  Pediatrics       Date:  1977-05       Impact factor: 7.124

6.  Letter: Variant forms of phenylketonuria.

Authors:  D M Danks; R G Cotton; P Schlesinger
Journal:  Lancet       Date:  1976-06-05       Impact factor: 79.321

7.  Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria.

Authors:  D M Danks; R G Cotton; P Schlesinger
Journal:  Lancet       Date:  1975-11-22       Impact factor: 79.321

8.  Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.

Authors:  R J Leeming; J A Blair; A Green; D N Raine
Journal:  Arch Dis Child       Date:  1976-10       Impact factor: 3.791

9.  Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.

Authors:  S Milstien; N A Holtzman; M E O'Flynn; G H Thomas; I J Butler; S Kaufman
Journal:  J Pediatr       Date:  1976-11       Impact factor: 4.406

10.  New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.

Authors:  I Smith; B E Clayton; O H Wolff
Journal:  Lancet       Date:  1975-05-17       Impact factor: 79.321
  10 in total
  32 in total

1.  Expanded newborn screening: reducing harm, assessing benefit.

Authors:  Bridget Wilcken
Journal:  J Inherit Metab Dis       Date:  2010-05-04       Impact factor: 4.982

2.  Relationship between plasma and red cell biopterins in acute and chronic hyperphenylalaninaemia.

Authors:  R J Leeming; S K Hall; I M Surplice; A Green
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.

Authors:  H Mikami; Y Matsubara; K Hayasaka; K Narisawa; M Obinata; A Watanabe; K Haginoya; S Miyabayashi; K Tada; H H Dahl
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiency.

Authors:  R G Cotton
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

5.  High-level expression of human dihydropteridine reductase (EC 1.6.99.7), without N-terminal amino acid protection, in Escherichia coli.

Authors:  W L Armarego; R G Cotton; H H Dahl; N E Dixon
Journal:  Biochem J       Date:  1989-07-01       Impact factor: 3.857

6.  Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.

Authors:  F Güttler; H Lou; C Lykkelund; A Niederwieser
Journal:  Eur J Pediatr       Date:  1984-06       Impact factor: 3.183

Review 7.  What we know that could influence future treatment of phenylketonuria.

Authors:  C N Sarkissian; A Gámez; C R Scriver
Journal:  J Inherit Metab Dis       Date:  2008-08-03       Impact factor: 4.982

8.  Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

Authors:  I Dianzani; D W Howells; A Ponzone; J A Saleeba; P M Smooker; R G Cotton
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

9.  The use of deuterated phenylalanine for the in vivo assay of phenylalanine hydroxylase activity in children.

Authors:  R Matalon; D E Matthews; K Michals; D Bier
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

10.  Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.

Authors:  R R McInnes; S Kaufman; J J Warsh; G R Van Loon; S Milstien; G Kapatos; S Soldin; P Walsh; D MacGregor; W B Hanley
Journal:  J Clin Invest       Date:  1984-02       Impact factor: 14.808
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