Literature DB >> 13386256

Detection of the heterozygous carriers of phenylketonuria.

K W DRISCOLL, D Y HSIA.   

Abstract

Entities:  

Keywords:  PHENYLALANINE/metabolism

Mesh：

Substances：

Year:  1956        PMID： 13386256     DOI： 10.1016/s0140-6736(56)91489-1

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  7 in total

1.  The detection and diagnosis of phenylketonuria.

Authors:  R J ALLEN
Journal:  Am J Public Health Nations Health       Date:  1960-11

2.  THE STRUCTURE OF THE PHENYLALANINE-HYDROXYLATION COFACTOR.

Authors:  S KAUFMAN
Journal:  Proc Natl Acad Sci U S A       Date:  1963-12       Impact factor: 11.205

3.  The laboratory detection of heterozygotes.

Authors:  D Y HSIA
Journal:  Am J Hum Genet       Date:  1957-06       Impact factor: 11.025

4.  Genetic implications of certain physiological processes affecting the metabolism of L-phenylalanine in man.

Authors:  R E TASHIAN; S M GARTLER
Journal:  Am J Hum Genet       Date:  1957-09       Impact factor: 11.025

5.  The detection in the heterozygote of the metabolic effect of the recessive gene for phenylketonuria.

Authors:  W E KNOX; E C MESSINGER
Journal:  Am J Hum Genet       Date:  1958-03       Impact factor: 11.025

6.  Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

Authors:  Vincenzo Leuzzi; Claudia Carducci; Flavia Chiarotti; Daniela D'Agnano; Maria Teresa Giannini; Italo Antonozzi; Carla Carducci
Journal:  JIMD Rep       Date:  2012-04-18

7.  Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method.

Authors:  F Güneral; I Ozalp; H Tatlidil
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  7 in total

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