Matches in SemOpenAlex for { <https://semopenalex.org/work/W4300161199> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W4300161199 endingPage "7" @default.
- W4300161199 startingPage "2794" @default.
- W4300161199 abstract "The three first cases of isovaleric acidemia diagnosed in Scandinavia are described. The disorder is characterized by periodic vomiting, lethargy and coma accompanied by ketoacidosis and a sweaty feet odour. These attacks are often triggered of by upper respiratory tract infections or by ingestion of large amounts of protein. Often there are feeding difficulties because these children have aversion to protein-containing foods. Isovaleric acidemia can be subdivided into two types: an acute neonatal form and a chronic intermittent form. The basic defect is deficient activity of isovaleryl-CoA dehydrogenase, resulting in increased urinary excretion of mainly isovaleryl-glycine and 3-hydroxy-isovaleric acid. The defective gene is assigned to the long arm of chromosome 15, and at least five different mutations among 15 patients have been demonstrated. Therapy is symptomatic with correction of the metabolic acidosis and protein restriction and long term treatment with oral glycine and possibly carnitine." @default.
- W4300161199 created "2022-10-03" @default.
- W4300161199 creator A5000233243 @default.
- W4300161199 creator A5023164064 @default.
- W4300161199 creator A5054356489 @default.
- W4300161199 creator A5060208101 @default.
- W4300161199 creator A5063846799 @default.
- W4300161199 creator A5073694229 @default.
- W4300161199 date "1989-10-23" @default.
- W4300161199 modified "2023-09-29" @default.
- W4300161199 title "[Isovaleric acidemia]." @default.
- W4300161199 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/2588357" @default.
- W4300161199 hasPublicationYear "1989" @default.
- W4300161199 type Work @default.
- W4300161199 citedByCount "0" @default.
- W4300161199 crossrefType "journal-article" @default.
- W4300161199 hasAuthorship W4300161199A5000233243 @default.
- W4300161199 hasAuthorship W4300161199A5023164064 @default.
- W4300161199 hasAuthorship W4300161199A5054356489 @default.
- W4300161199 hasAuthorship W4300161199A5060208101 @default.
- W4300161199 hasAuthorship W4300161199A5063846799 @default.
- W4300161199 hasAuthorship W4300161199A5073694229 @default.
- W4300161199 hasConcept C100136789 @default.
- W4300161199 hasConcept C120665830 @default.
- W4300161199 hasConcept C121332964 @default.
- W4300161199 hasConcept C126322002 @default.
- W4300161199 hasConcept C134018914 @default.
- W4300161199 hasConcept C187212893 @default.
- W4300161199 hasConcept C193230392 @default.
- W4300161199 hasConcept C2777260799 @default.
- W4300161199 hasConcept C2777756961 @default.
- W4300161199 hasConcept C2779246250 @default.
- W4300161199 hasConcept C2780852908 @default.
- W4300161199 hasConcept C2908585274 @default.
- W4300161199 hasConcept C515207424 @default.
- W4300161199 hasConcept C55493867 @default.
- W4300161199 hasConcept C71924100 @default.
- W4300161199 hasConcept C86803240 @default.
- W4300161199 hasConcept C90924648 @default.
- W4300161199 hasConceptScore W4300161199C100136789 @default.
- W4300161199 hasConceptScore W4300161199C120665830 @default.
- W4300161199 hasConceptScore W4300161199C121332964 @default.
- W4300161199 hasConceptScore W4300161199C126322002 @default.
- W4300161199 hasConceptScore W4300161199C134018914 @default.
- W4300161199 hasConceptScore W4300161199C187212893 @default.
- W4300161199 hasConceptScore W4300161199C193230392 @default.
- W4300161199 hasConceptScore W4300161199C2777260799 @default.
- W4300161199 hasConceptScore W4300161199C2777756961 @default.
- W4300161199 hasConceptScore W4300161199C2779246250 @default.
- W4300161199 hasConceptScore W4300161199C2780852908 @default.
- W4300161199 hasConceptScore W4300161199C2908585274 @default.
- W4300161199 hasConceptScore W4300161199C515207424 @default.
- W4300161199 hasConceptScore W4300161199C55493867 @default.
- W4300161199 hasConceptScore W4300161199C71924100 @default.
- W4300161199 hasConceptScore W4300161199C86803240 @default.
- W4300161199 hasConceptScore W4300161199C90924648 @default.
- W4300161199 hasIssue "43" @default.
- W4300161199 hasLocation W43001611991 @default.
- W4300161199 hasOpenAccess W4300161199 @default.
- W4300161199 hasPrimaryLocation W43001611991 @default.
- W4300161199 hasRelatedWork W1802973846 @default.
- W4300161199 hasRelatedWork W1966033216 @default.
- W4300161199 hasRelatedWork W2045865503 @default.
- W4300161199 hasRelatedWork W2057825690 @default.
- W4300161199 hasRelatedWork W2084494634 @default.
- W4300161199 hasRelatedWork W2314119136 @default.
- W4300161199 hasRelatedWork W2807433928 @default.
- W4300161199 hasRelatedWork W2981090336 @default.
- W4300161199 hasRelatedWork W3029280428 @default.
- W4300161199 hasRelatedWork W2082003133 @default.
- W4300161199 hasVolume "151" @default.
- W4300161199 isParatext "false" @default.
- W4300161199 isRetracted "false" @default.
- W4300161199 workType "article" @default.