Progress in the identification of the heterozygote in phenylketonuria (Q38349899)

2 September 2017

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title

Progress in the identification of the heterozygote in phenylketonuria (English)

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2 September 2017

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Lehmann WD

1

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2 September 2017

language of work or name

English

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publication date

1 June 1989

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The Journal of Pediatrics

2 September 2017

published in

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2 September 2017

volume

114

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2 September 2017

issue

6

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2 September 2017

page(s)

915-924

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Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität

2 September 2017

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1 reference

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Phenylketonuria: epitome of human biochemical genetics (second of two parts)

7 January 2021

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Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

7 January 2021

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Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin

7 January 2021

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Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

7 January 2021

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Detection of the heterozygous carriers of phenylketonuria

7 January 2021

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Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria

7 January 2021

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Detection of heterozygotes for phenylketonuria

7 January 2021

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Identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses

7 January 2021

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Determination of heterozygosity for phenylketonuria on the amino acid analyzer

7 January 2021

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Detection of Heterozygotes for Phenylketonuria by Column Chromatography and Discriminatory Analysis

7 January 2021

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Classic phenylketonuria: Diagnosis through heterozygote detection

7 January 2021

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Phenylalanine loading tests in genetic counselling: 5 years exprience with its premarital use

7 January 2021

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Detection of heterozygous carriers for phenylketonuria by a L-[2H5]phenylalanine stable isotope loading test.

7 January 2021

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A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria

7 January 2021

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Problems in the biochemical detection of heterozygotes for phenylketonuria

7 January 2021

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Reduction of plasma tyrosine by oral contraceptives and oestrogens: A possible consequence of tyrosine aminotransferase induction

7 January 2021

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Impaired phenylalanine-tyrosine conversion in patients with iron-deficiency anemia studied by a L-(2H5)phenylalanine-loading test.

7 January 2021

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Metabolism of phenylalanine in liver diseases

7 January 2021

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Effects of oral contraceptives and obesity on carrier tests for phenylketonuria.

7 January 2021

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Studies on the metabolism of phenylalanine and tyrosine in patients with renal disease

7 January 2021

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The significance and mechanism of an increased serum phenylalanine-tyrosine ratio during infection

7 January 2021

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Metabolic conversion of L-[U-14C]phenylalanine to respiratory 14CO2 in healthy subjects, phenylketonuria heterozygotes and classic phenylketonurics

7 January 2021

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Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

7 January 2021

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Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

7 January 2021

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Molecular genetics of PKU

7 January 2021

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Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

7 January 2021

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Prenatal diagnosis of classic phenylketonuria by DNA analysis

7 January 2021

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Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

7 January 2021

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An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

7 January 2021

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Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders

7 January 2021

1 reference

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Plasma phenylalanine and tyrosine levels during the day in normal female controls and female obligate phenylketonuria heterozygotes.

7 January 2021

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(89)80431-7

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release_bxa6i3czijhczkkqvndkvzkdsm

2 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bxa6i3czijhczkkqvndkvzkdsm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference