Literature DB >> 10947211

Molecular basis of mild hyperphenylalaninaemia in Turkey.

E Yilmaz1, F Cali, V Roman, I Ozalp, T Coşkun, A Tokatli, H S Kalkanoğlu, M Ozgüç.   

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Year:  2000        PMID： 10947211     DOI： 10.1023/a:1005628717813

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


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  5 in total

1.  Phenylketonuria mutations in Germany.

Authors:  J Zschocke; G F Hoffmann
Journal:  Hum Genet       Date:  1999-05       Impact factor: 4.132

2.  PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.

Authors:  V Romano; P Guldberg; F Güttler; C Meli; F Mollica; L Pavone; M Giovannini; E Riva; G Biasucci; D Luotti; L Palillo; F Calí; N Ceratto; G Anello; P Bosco
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Mutation analysis in Turkish phenylketonuria patients.

Authors:  M Ozgüç; I Ozalp; T Coşkun; E Yilmaz; H Erdem; S Ayter
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

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

Authors:  P Guldberg; V Romano; N Ceratto; P Bosco; M Ciuna; A Indelicato; F Mollica; C Meli; M Giovannini; E Riva
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150

5.  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
  5 in total
  5 in total

1.  Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).

Authors:  A Romstad; H S Kalkanoğlu; T Coşkun; M Demirkol; A Tokatli; A Dursun; T Baykal; I Ozalp; P Guldberg; F Güttler
Journal:  Hum Genet       Date:  2000-12       Impact factor: 4.132

2.  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

3.  Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.

Authors:  Tina Shirzadeh; Amir Hossein Saeidian; Hamideh Bagherian; Shadab Salehpour; Aria Setoodeh; Mohammad Reza Alaei; Leila Youssefian; Ashraf Samavat; Andrew Touati; Mohammad-Sadegh Fallah; Hassan Vahidnezhad; Morteza Karimipoor; Sarah Azadmehr; Marzieh Raeisi; Ameneh Bandehi Sarhadi; Fatemeh Zafarghandi Motlagh; Mojdeh Jamali; Zahra Zeinali; Maryam Abiri; Sirous Zeinali
Journal:  J Inherit Metab Dis       Date:  2018-08-29       Impact factor: 4.982

4.  Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.

Authors:  Reza Alibakhshi; Keyvan Moradi; Zahra Mohebbi; Keyghobad Ghadiri
Journal:  Metab Brain Dis       Date:  2013-09-19       Impact factor: 3.584

5.  Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China.

Authors:  Long Li; Yulan Qin; Yajie Su; Haili Jiang; Nuerya Rejiafu; Mingzhu Li; Ayijiamali Muhetaer; Yongqiao Liu; Yan Ren
Journal:  J Clin Lab Anal       Date:  2018-09-17       Impact factor: 2.352
  5 in total

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