Literature DB >> 13783038

Increased reliability for the determination of the carrier state in phenylketonuria.

H L WANG, N E MORTON, H A WAISMAN.   

Abstract

Entities:  

Keywords:  GENETICS, HUMAN; PHENYLALANINE/metabolism

Mesh:

Substances:

Year:  1961        PMID: 13783038      PMCID: PMC1932125     

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


× No keyword cloud information.
  7 in total

1.  Phenylketonuria: a linkage study using phenylalanine tolerance tests.

Authors:  J H RENWICK; S D LAWLER; V A COWIE
Journal:  Am J Hum Genet       Date:  1960-09       Impact factor: 11.025

2.  Studies on linkage between phenylketonuria and the blood groups.

Authors:  D Y HSIA; A G STEINBERG
Journal:  Am J Hum Genet       Date:  1960-09       Impact factor: 11.025

3.  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

4.  Detection by phenylalanine tolerance tests of heterozygous carriers of phenylketonuria.

Authors:  K W DRISCOLL; D Y HSIA; W E KNOX; W TROLL
Journal:  Nature       Date:  1956-12-01       Impact factor: 49.962

5.  Assay of L-phenylalanine as phenylethylamine after enzymatic decarboxylation; application to isotopic studies.

Authors:  S UDENFRIEND; J R COOPER
Journal:  J Biol Chem       Date:  1953-08       Impact factor: 5.157

6.  The chemical estimation of tyrosine and tyramine.

Authors:  S UDENFRIEND; J R COOPER
Journal:  J Biol Chem       Date:  1952-05       Impact factor: 5.157

7.  Measurement of pleiotropic effects in phenylketonuria.

Authors:  L S PENROSE
Journal:  Ann Eugen       Date:  1951-09
  7 in total
  4 in total

1.  Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio.

Authors:  A Westwood; D N Raine
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

2.  Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninaemia.

Authors:  J M Saraiva; J W Seakins; I Smith
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Detection of phenylketonuria carriers.

Authors:  S Kelly; F Rose
Journal:  Public Health Rep       Date:  1969-02       Impact factor: 2.792

4.  Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

Authors:  E Svensson; L Iselius; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.