Metabolic Disorders and Biochemical Genetics leaf node


URI

https://openalex.org/T11027

Label

Metabolic Disorders and Biochemical Genetics

Description

This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders.

Implementation

@prefix oasubfields: <https://openalex.org/subfields/> .
@prefix openalex: <https://lambdamusic.github.io/openalex-hacks/ontology/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<https://openalex.org/T11027> a skos:Concept ;
    rdfs:label "Metabolic Disorders and Biochemical Genetics"@en ;
    rdfs:isDefinedBy openalex: ;
    owl:sameAs <https://en.wikipedia.org/wiki/Metabolic_disorder>,
        <https://openalex.org/T11027> ;
    skos:broader oasubfields:1308 ;
    skos:definition "This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders."@en ;
    skos:inScheme openalex: ;
    skos:prefLabel "Metabolic Disorders and Biochemical Genetics"@en ;
    openalex:cited_by_count 2021698 ;
    openalex:works_count 181874 .