Literature DB >> 5410255

Clinical and biochemical observations of patients with atypical phenylketonuria.

E S Kang, S Kaufman, P S Gerald.   

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Year:  1970        PMID: 5410255

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


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  13 in total

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

Authors:  D DiSilvestre; R Koch; J Groffen
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

Review 2.  Food intolerance in humans.

Authors:  R H Herman; L Hagler
Journal:  West J Med       Date:  1979-02

3.  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

4.  A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia.

Authors:  Y Okano; R C Eisensmith; M Dasovich; T Wang; F Güttler; S L Woo
Journal:  Eur J Pediatr       Date:  1991-03       Impact factor: 3.183

5.  Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.

Authors:  P Guldberg; H L Levy; R Koch; C M Berlin; B Francois; K F Henriksen; F Güttler
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

6.  Survey of departments of health about PKU screening programs.

Authors:  K C Steiner; H A Smith
Journal:  Public Health Rep       Date:  1975 Jan-Feb       Impact factor: 2.792

7.  Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.

Authors:  P A Friedman; D B Fisher; E S Kang; S Kaufman
Journal:  Proc Natl Acad Sci U S A       Date:  1973-02       Impact factor: 11.205

8.  [Urinary phenylalanine metabolites in hyperphenylalaninemia (author's transl)].

Authors:  P Koepp
Journal:  Klin Wochenschr       Date:  1976-11-01

Review 9.  Diseases of phenylalanine metabolism.

Authors:  C E Parker
Journal:  West J Med       Date:  1979-10

10.  Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.

Authors:  S Avigad; S Kleiman; M Weinstein; B E Cohen; G Schwartz; S L Woo; Y Shiloh
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

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