Literature DB >> 2018035

Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.

D DiSilvestre, R Koch, J Groffen.   

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Year:  1991        PMID： 2018035      PMCID： PMC1683043     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

1.  Diagnosis in relationship to treatment of hyperphenylalaninaemia.

Authors:  M E Blaskovics
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  A hypervariable RFLP within the ABR gene.

Authors:  D DiSilvestre; C Morris; N Heisterkamp; J Groffen
Journal:  Nucleic Acids Res       Date:  1990-10-11       Impact factor: 16.971

Review 3.  Molecular basis and population genetics of phenylketonuria.

Authors:  S L Woo
Journal:  Biochemistry       Date:  1989-01-10       Impact factor: 3.162

4.  Clinical and biochemical observations of patients with atypical phenylketonuria.

Authors:  E S Kang; S Kaufman; P S Gerald
Journal:  Pediatrics       Date:  1970-01       Impact factor: 7.124

Review 5.  Atypical cases of phenylketonuria.

Authors:  J L Dhondt; J P Farriaux
Journal:  Eur J Pediatr       Date:  1987       Impact factor: 3.183

6.  DNA haplotype analyses of patients with hyperphenylalaninemia.

Authors:  D Di Silvestre; A Pandya; R Koch; J Groffen
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

7.  Prenatal diagnosis of classic phenylketonuria by DNA analysis.

Authors:  A S Lidsky; F Güttler; S L Woo
Journal:  Lancet       Date:  1985-03-09       Impact factor: 79.321

8.  Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

Authors:  S W John; R Rozen; C R Scriver; R Laframboise; C Laberge
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025
  8 in total
  9 in total

Review 1.  The genetic contribution to the phenotype.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

2.  From genotype to phenotype: genetics and medical practice in the new millennium.

Authors:  D Weatherall
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1999-12-29       Impact factor: 6.237

3.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

4.  Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Authors:  S Kleiman; L Vanagaite; J Bernstein; G Schwartz; N Brand; A Elitzur; S L Woo; Y Shiloh
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

5.  Comparison of genotype and intellectual phenotype in untreated PKU patients.

Authors:  S J Ramus; S M Forrest; D B Pitt; J A Saleeba; R G Cotton
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

6.  Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.

Authors:  H G Eiken; P M Knappskog; K Motzfeldt; H Boman; J Apold
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

7.  Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.

Authors:  J J Johnston; U Lichter-Konecki; E Wilson; B R Cobb; B M Evans; R E Schnur; L-J C Wong
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

8.  PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.

Authors:  H G Eiken; K Stangeland; L Skjelkvåle; P M Knappskog; H Boman; J Apold
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

9.  Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.

Authors:  Jerry Vockley; Steven F Dobrowolski; Georgianne L Arnold; Ruben Bonilla Guerrero; Terry G J Derks; David A Weinstein
Journal:  Mol Genet Metab       Date:  2019-07-19       Impact factor: 4.797
  9 in total

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