Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Inborn_error_of_metabolism> ?p ?o }
- Inborn_error_of_metabolism abstract "Inborn errors of metabolism form a large class of genetic diseases involving congenital 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 icd10 "E70-E90".
- Inborn_error_of_metabolism icd9 "-".
- Inborn_error_of_metabolism icd9 "270".
- Inborn_error_of_metabolism icd9 "279".
- 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 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 wikiPageLength "11337".
- Inborn_error_of_metabolism wikiPageOutDegree "138".
- Inborn_error_of_metabolism wikiPageRevisionID "670859093".
- Inborn_error_of_metabolism wikiPageWikiLink %22one_gene-one_enzyme%22_hypothesis.
- Inborn_error_of_metabolism wikiPageWikiLink 2-Hydroxyglutaric_aciduria.
- Inborn_error_of_metabolism wikiPageWikiLink Abdominal_pain.
- Inborn_error_of_metabolism wikiPageWikiLink Acute_intermittent_porphyria.
- Inborn_error_of_metabolism wikiPageWikiLink Acylcarnitines.
- Inborn_error_of_metabolism wikiPageWikiLink Adrenal_insufficiency.
- Inborn_error_of_metabolism wikiPageWikiLink Alcaptonuria.
- Inborn_error_of_metabolism wikiPageWikiLink Alkaptonuria.
- Inborn_error_of_metabolism wikiPageWikiLink Amino_acid.
- Inborn_error_of_metabolism wikiPageWikiLink Amino_acid_disorder.
- Inborn_error_of_metabolism wikiPageWikiLink Amino_acids.
- Inborn_error_of_metabolism wikiPageWikiLink Anemia.
- Inborn_error_of_metabolism wikiPageWikiLink Archibald_Garrod.
- Inborn_error_of_metabolism wikiPageWikiLink Autopsy.
- Inborn_error_of_metabolism wikiPageWikiLink Biopsy.
- Inborn_error_of_metabolism wikiPageWikiLink Blindness.
- Inborn_error_of_metabolism wikiPageWikiLink Blood_plasma.
- Inborn_error_of_metabolism wikiPageWikiLink Bone_marrow.
- Inborn_error_of_metabolism wikiPageWikiLink Brain.
- Inborn_error_of_metabolism wikiPageWikiLink British_Columbia.
- Inborn_error_of_metabolism wikiPageWikiLink Cancer.
- Inborn_error_of_metabolism wikiPageWikiLink Carbamoyl_phosphate_synthetase_I_deficiency.
- Inborn_error_of_metabolism wikiPageWikiLink Carbohydrate.
- Inborn_error_of_metabolism wikiPageWikiLink Cardiomegaly.
- Inborn_error_of_metabolism wikiPageWikiLink Category:Inborn_errors_of_metabolism.
- Inborn_error_of_metabolism wikiPageWikiLink Category:Medical_genetics.
- Inborn_error_of_metabolism wikiPageWikiLink Category:Metabolism.
- Inborn_error_of_metabolism wikiPageWikiLink Category:Pediatrics.
- Inborn_error_of_metabolism wikiPageWikiLink Clinical_depression.
- Inborn_error_of_metabolism wikiPageWikiLink Congenital.
- Inborn_error_of_metabolism wikiPageWikiLink Congenital_adrenal_hyperplasia.
- Inborn_error_of_metabolism wikiPageWikiLink Congenital_disorder.
- Inborn_error_of_metabolism wikiPageWikiLink Congenital_disorders_of_amino_acid_metabolism.
- Inborn_error_of_metabolism wikiPageWikiLink Congenital_malformation.
- Inborn_error_of_metabolism wikiPageWikiLink DNA_testing.
- Inborn_error_of_metabolism wikiPageWikiLink Deafness.
- Inborn_error_of_metabolism wikiPageWikiLink Dehydration.
- Inborn_error_of_metabolism wikiPageWikiLink Delayed_puberty.
- Inborn_error_of_metabolism wikiPageWikiLink Dementia.
- Inborn_error_of_metabolism wikiPageWikiLink Developmental_delay.
- Inborn_error_of_metabolism wikiPageWikiLink Diabetes_mellitus.
- Inborn_error_of_metabolism wikiPageWikiLink Diagnostic_test.
- Inborn_error_of_metabolism wikiPageWikiLink Diarrhea.
- Inborn_error_of_metabolism wikiPageWikiLink Edema.
- Inborn_error_of_metabolism wikiPageWikiLink Encephalopathy.
- Inborn_error_of_metabolism wikiPageWikiLink Enzyme.
- Inborn_error_of_metabolism wikiPageWikiLink Epileptic_seizure.
- Inborn_error_of_metabolism wikiPageWikiLink Failure_to_thrive.
- Inborn_error_of_metabolism wikiPageWikiLink Ferric_chloride_test.
- Inborn_error_of_metabolism wikiPageWikiLink Gas_chromatography-mass_spectrometry.
- Inborn_error_of_metabolism wikiPageWikiLink Gas_chromatography–mass_spectrometry.
- Inborn_error_of_metabolism wikiPageWikiLink Gauchers_disease.
- Inborn_error_of_metabolism wikiPageWikiLink Gene.
- Inborn_error_of_metabolism wikiPageWikiLink Gene_therapy.
- Inborn_error_of_metabolism wikiPageWikiLink Genetic_disease.
- Inborn_error_of_metabolism wikiPageWikiLink Genetic_disorder.
- Inborn_error_of_metabolism wikiPageWikiLink Genetic_testing.
- Inborn_error_of_metabolism wikiPageWikiLink Glutaric_acidemia_type_1.
- Inborn_error_of_metabolism wikiPageWikiLink Glutaric_aciduria_type_1.
- Inborn_error_of_metabolism wikiPageWikiLink Glycogen_storage_disease.
- Inborn_error_of_metabolism wikiPageWikiLink Growth_failure.
- Inborn_error_of_metabolism wikiPageWikiLink Guthrie_test.
- Inborn_error_of_metabolism wikiPageWikiLink Hearing_loss.
- Inborn_error_of_metabolism wikiPageWikiLink Heart_failure.
- Inborn_error_of_metabolism wikiPageWikiLink Hepatomegaly.
- Inborn_error_of_metabolism wikiPageWikiLink Hirsutism.
- Inborn_error_of_metabolism wikiPageWikiLink Hypertension.
- Inborn_error_of_metabolism wikiPageWikiLink Hyperventilation.
- Inborn_error_of_metabolism wikiPageWikiLink Hypoglycemia.
- Inborn_error_of_metabolism wikiPageWikiLink Hypogonadism.
- Inborn_error_of_metabolism wikiPageWikiLink Hypotension.
- Inborn_error_of_metabolism wikiPageWikiLink Hypothyroidism.
- Inborn_error_of_metabolism wikiPageWikiLink Immunodeficiency.
- Inborn_error_of_metabolism wikiPageWikiLink Inborn_error_of_lipid_metabolism.
- Inborn_error_of_metabolism wikiPageWikiLink Inborn_errors_of_carbohydrate_metabolism.
- Inborn_error_of_metabolism wikiPageWikiLink Inborn_errors_of_steroid_metabolism.
- Inborn_error_of_metabolism wikiPageWikiLink Intersex.
- Inborn_error_of_metabolism wikiPageWikiLink Jaundice.
- Inborn_error_of_metabolism wikiPageWikiLink Kearns-Sayre_syndrome.