Literature DB >> 10896287

Genotype-phenotype correlation in dihydropteridine reductase deficiency.

L de Sanctis1, C Alliaudi, M Spada, R Farrugia, R Cerone, G Biasucci, C Meli, E Zammarchi, T Coskun, N Blau, A Ponzone, I Dianzani.   

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Year:  2000        PMID： 10896287     DOI： 10.1023/a:1005662710891

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


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  10 in total

1.  International database of tetrahydrobiopterin deficiencies.

Authors:  N Blau; I Barnes; J L Dhondt
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Crystal structure of rat liver dihydropteridine reductase.

Authors:  K I Varughese; M M Skinner; J M Whiteley; D A Matthews; N H Xuong
Journal:  Proc Natl Acad Sci U S A       Date:  1992-07-01       Impact factor: 11.205

3.  A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.

Authors:  P M Smooker; T J Gough; R G Cotton; C Alliaudi; L de Sanctis; I Dianzani
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

Review 4.  Tetrahydrobiopterin and inherited hyperphenylalaninemias.

Authors:  N Blau; B Thony; M Spada; A Ponzone
Journal:  Turk J Pediatr       Date:  1996 Jan-Mar       Impact factor: 0.552

5.  Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.

Authors:  A Ponzone; O Guardamagna; M Spada; S Ferraris; R Ponzone; L Kierat; N Blau
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

6.  Structural and mechanistic implications of incorporating naturally occurring aberrant mutations of human dihydropteridine reductase into a rat model.

Authors:  K I Varughese; N H Xuong; J M Whiteley
Journal:  Int J Pept Protein Res       Date:  1994-09

7.  Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.

Authors:  I Dianzani; L de Sanctis; P M Smooker; T J Gough; C Alliaudi; A Brusco; M Spada; N Blau; M Dobos; H P Zhang; N Yang; A Ponzone; W L Armarego; R G Cotton
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

8.  Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.

Authors:  N Blau; C W Heizmann; W Sperl; G C Korenke; G F Hoffmann; P M Smooker; R G Cotton
Journal:  Pediatr Res       Date:  1992-12       Impact factor: 3.756

9.  Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.

Authors:  P M Smooker; D W Howells; R G Cotton
Journal:  Biochemistry       Date:  1993-06-29       Impact factor: 3.162

10.  A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Authors:  P Guldberg; F Rey; J Zschocke; V Romano; B François; L Michiels; K Ullrich; G F Hoffmann; P Burgard; H Schmidt; C Meli; E Riva; I Dianzani; A Ponzone; J Rey; F Güttler
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
  10 in total
  3 in total

1.  QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.

Authors:  De-Yun Lu; Jun Ye; Lian-Shu Han; Wen-Juan Qiu; Hui-Wen Zhang; Jian-De Zhou; Pei-Zhong Bao; Ya-Fen Zhang; Xue-Fan Gu
Journal:  World J Pediatr       Date:  2014-08-15       Impact factor: 2.764

Review 2.  Disorders of biopterin metabolism.

Authors:  Nicola Longo
Journal:  J Inherit Metab Dis       Date:  2009-02-09       Impact factor: 4.982

3.  Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.

Authors:  D Concolino; G Muzzi; M Rapsomaniki; M T Moricca; M G Pascale; P Strisciuglio
Journal:  J Inherit Metab Dis       Date:  2008-04-15       Impact factor: 4.982
  3 in total

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