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- Inborn_error_of_metabolism abstract "Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases.The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857–1936), in the early 20th century (1908). He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published in 1923.".
- Inborn_error_of_metabolism emedicineSubject "emerg".
- Inborn_error_of_metabolism emedicineTopic "768".
- Inborn_error_of_metabolism icd10 "E70-E90".
- Inborn_error_of_metabolism icd9 "270-279".
- Inborn_error_of_metabolism medlineplus "002438".
- Inborn_error_of_metabolism meshId "D008661".
- Inborn_error_of_metabolism wikiPageExternalLink genetics.
- Inborn_error_of_metabolism wikiPageExternalLink health.nih.gov.
- Inborn_error_of_metabolism wikiPageExternalLink rarediseases.info.nih.gov.
- Inborn_error_of_metabolism wikiPageExternalLink facsimile.
- Inborn_error_of_metabolism wikiPageExternalLink www.geneticalliance.org.
- Inborn_error_of_metabolism wikiPageExternalLink 10000409.
- Inborn_error_of_metabolism wikiPageExternalLink 19016903.
- Inborn_error_of_metabolism wikiPageExternalLink Education.
- Inborn_error_of_metabolism wikiPageExternalLink about.html.
- Inborn_error_of_metabolism wikiPageExternalLink medlineplus.
- Inborn_error_of_metabolism wikiPageExternalLink www.orpha.net.
- Inborn_error_of_metabolism wikiPageExternalLink www.rarediseases.org.
- Inborn_error_of_metabolism wikiPageID "1125625".
- Inborn_error_of_metabolism wikiPageRevisionID "604868032".
- Inborn_error_of_metabolism emedicinesubj "emerg".
- Inborn_error_of_metabolism emedicinetopic "768".
- Inborn_error_of_metabolism hasPhotoCollection Inborn_error_of_metabolism.
- Inborn_error_of_metabolism icd "270".
- Inborn_error_of_metabolism icd "E70-E90".
- Inborn_error_of_metabolism medlineplus "2438".
- Inborn_error_of_metabolism meshid "D008661".
- Inborn_error_of_metabolism name "Inborn error of metabolism".
- Inborn_error_of_metabolism wordnet_type synset-disease-noun-1.
- Inborn_error_of_metabolism subject Category:Inborn_errors_of_metabolism.
- Inborn_error_of_metabolism subject Category:Medical_genetics.
- Inborn_error_of_metabolism subject Category:Metabolism.
- Inborn_error_of_metabolism subject Category:Pediatrics.
- Inborn_error_of_metabolism type Disease.
- Inborn_error_of_metabolism type AilmentCondition.
- Inborn_error_of_metabolism type Situation.
- Inborn_error_of_metabolism comment "Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.".
- Inborn_error_of_metabolism label "Erro metabólico hereditário".
- Inborn_error_of_metabolism label "Error congénito del metabolismo".
- Inborn_error_of_metabolism label "Errore congenito del metabolismo".
- Inborn_error_of_metabolism label "Inborn error of metabolism".
- Inborn_error_of_metabolism label "Maladie métabolique génétique".
- Inborn_error_of_metabolism label "Wrodzone błędy metabolizmu".
- Inborn_error_of_metabolism label "Метаболические заболевания".
- Inborn_error_of_metabolism label "先天性代謝異常症".
- Inborn_error_of_metabolism label "遗传性代谢缺陷".
- Inborn_error_of_metabolism sameAs Vrozená_metabolická_porucha.
- Inborn_error_of_metabolism sameAs Error_congénito_del_metabolismo.
- Inborn_error_of_metabolism sameAs Maladie_métabolique_génétique.
- Inborn_error_of_metabolism sameAs Errore_congenito_del_metabolismo.
- Inborn_error_of_metabolism sameAs 先天性代謝異常症.
- Inborn_error_of_metabolism sameAs Wrodzone_błędy_metabolizmu.
- Inborn_error_of_metabolism sameAs Erro_metabólico_hereditário.
- Inborn_error_of_metabolism sameAs Metabolic_Disease.
- Inborn_error_of_metabolism sameAs m.048fwq.
- Inborn_error_of_metabolism sameAs Q1758393.
- Inborn_error_of_metabolism sameAs Q1758393.
- Inborn_error_of_metabolism wasDerivedFrom Inborn_error_of_metabolism?oldid=604868032.
- Inborn_error_of_metabolism isPrimaryTopicOf Inborn_error_of_metabolism.
- Inborn_error_of_metabolism name "Inborn error of metabolism".