Literature DB >> 7609462

Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.

F Güttler1, P Guldberg, K F Henriksen, I Mikkelsen, B Olsen, H Lou.   

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Year:  1993        PMID： 7609462     DOI： 10.1007/BF00711693

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


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  8 in total

1.  PCR in the diagnosis of phenylketonuria.

Authors:  P Guldberg; F Güttler
Journal:  Ann Med       Date:  1992-06       Impact factor: 4.709

2.  Carrier screening for cystic fibrosis and other autosomal recessive diseases.

Authors:  L P ten Kate
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

3.  Molecular genetics of PKU.

Authors:  F Güttler; S L Woo
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  Molecular basis of phenotypic heterogeneity in phenylketonuria.

Authors:  Y Okano; R C Eisensmith; F Güttler; U Lichter-Konecki; D S Konecki; F K Trefz; M Dasovich; T Wang; K Henriksen; H Lou
Journal:  N Engl J Med       Date:  1991-05-02       Impact factor: 91.245

5.  Molecular basis for nonphenylketonuria hyperphenylalaninemia.

Authors:  E Economou-Petersen; K F Henriksen; P Guldberg; F Güttler
Journal:  Genomics       Date:  1992-09       Impact factor: 5.736

6.  Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.

Authors:  C Wong; C E Dowling; R K Saiki; R G Higuchi; H A Erlich; H H Kazazian
Journal:  Nature       Date:  1987 Nov 26-Dec 2       Impact factor: 49.962

Review 7.  Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

Authors:  F Güttler
Journal:  Acta Paediatr Scand Suppl       Date:  1980

8.  Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction.

Authors:  A G DiLella; W M Huang; S L Woo
Journal:  Lancet       Date:  1988-03-05       Impact factor: 79.321
  8 in total
  7 in total

1.  Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Authors:  V Guzzetta; G Bonapace; I Dianzani; G Parenti; M Lecora; S Giannattasio; D Concolino; P Strisciuglio; G Sebastio; G Andria
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

2.  The Genetic Landscape and Epidemiology of Phenylketonuria.

Authors:  Alicia Hillert; Yair Anikster; Amaya Belanger-Quintana; Alberto Burlina; Barbara K Burton; Carla Carducci; Ana E Chiesa; John Christodoulou; Maja Đorđević; Lourdes R Desviat; Aviva Eliyahu; Roeland A F Evers; Lena Fajkusova; François Feillet; Pedro E Bonfim-Freitas; Maria Giżewska; Polina Gundorova; Daniela Karall; Katya Kneller; Sergey I Kutsev; Vincenzo Leuzzi; Harvey L Levy; Uta Lichter-Konecki; Ania C Muntau; Fares Namour; Mariusz Oltarzewski; Andrea Paras; Belen Perez; Emil Polak; Alexander V Polyakov; Francesco Porta; Marianne Rohrbach; Sabine Scholl-Bürgi; Norma Spécola; Maja Stojiljković; Nan Shen; Luiz C Santana-da Silva; Anastasia Skouma; Francjan van Spronsen; Vera Stoppioni; Beat Thöny; Friedrich K Trefz; Jerry Vockley; Youngguo Yu; Johannes Zschocke; Georg F Hoffmann; Sven F Garbade; Nenad Blau
Journal:  Am J Hum Genet       Date:  2020-07-14       Impact factor: 11.025

3.  Phenotype distribution in the Spanish phenylketonuria population and related genotypes.

Authors:  M Martínez-Pardo; A R Colmenares; M J García; B Pérez; L R Desviat; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Heterogeneity of phenylketonuria in Belgium at the genotype-phenotype level.

Authors:  B Francois; C Vandevyver; P Verelst; L Phillippaert; J Raus
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.

Authors:  B Pérez; L R Desviat; M Ugarte
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

6.  Molecular basis of mild hyperphenylalaninaemia in Poland.

Authors:  C Zekanowski; M Nowacka; B Cabalska; J Bal
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

7.  Brain magnetic resonance imaging in children with optimally controlled hyperphenylalaninaemia.

Authors:  P B Toft; H C Lou; I Krägeloh-Mann; J Andresen; F Güttler; P Guldberg; O Henriksen
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  7 in total

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