Literature DB >> 732857

Phenylketonuria (PKU) in Israel.

B E Cohen, A Szeinberg, Y Levine, I Peled, S Pollack, M Crispin, M Normand.   

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Year:  1978        PMID： 732857     DOI： 10.1159/000401617

Source DB:  PubMed          Journal:  Monogr Hum Genet        ISSN： 0077-0876


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  4 in total

1.  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

2.  A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.

Authors:  M Weinstein; R C Eisensmith; V Abadie; S Avigad; S Lyonnet; G Schwartz; A Munnich; S L Woo; Y Shiloh
Journal:  Hum Genet       Date:  1993-02       Impact factor: 4.132

3.  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

4.  Peak bone mass in patients with phenylketonuria.

Authors:  D Modan-Moses; I Vered; G Schwartz; Y Anikster; S Abraham; R Segev; Ori Efrati
Journal:  J Inherit Metab Dis       Date:  2007-03-08       Impact factor: 4.750
  4 in total

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