Matches in SemOpenAlex for { <https://semopenalex.org/work/W2183612879> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W2183612879 abstract "The present study reports the chemical diagnosis of 254 high-risk children by GC/MS using MILS method, which detects biochemical marker compounds specific for congenital metabolic disorders. Air-dried urine filter paper allows simple bedside collection, transportation and a link with other hospitals. Simulta- neous analysis of 101 metabolic disorders has the advan- tage of a wide range of detection to the attending doctor having limited health infrastructure in small towns and rural areas. The definite diagnosis was done in 44 samples (17.3%), reflecting the vast unexplored population of varied genetic etiology. This higher incidence in com- parison with the earlier reports (4-5%) from India, based on conventional methods indicated the urgency of lat- est technology. In critically-ill neonates, the metabolic abnormality was 24.3%. This emphasizes the crucial role of GC/MS in preventing mortality and morbidity. The high-risk genetic factors were consanguinity (13%), fam- ily history of mental retardation (13%), and stillbirth and deaths (33%), indicating the racial and ethnic diver- sity, as well as cultural and traditional impact. The 3 interesting cases among many are discussed where suc- cessful management and therapy was done. Accuracy of GC/MS analysis made genetic counselling more effective in evaluating the risk of Inborn Errors of Metabolism (IEM) in future pregnancy." @default.
- W2183612879 created "2016-06-24" @default.
- W2183612879 creator A5019314045 @default.
- W2183612879 creator A5035841408 @default.
- W2183612879 creator A5042899941 @default.
- W2183612879 creator A5048763600 @default.
- W2183612879 creator A5089219803 @default.
- W2183612879 date "2001-09-01" @default.
- W2183612879 modified "2023-09-27" @default.
- W2183612879 title "Chemical Diagnosis of Congenital Metabolic Disorders by Gas Chromatography / Mass Spectrometry (GC/MS) in India" @default.
- W2183612879 cites W1596206507 @default.
- W2183612879 cites W1603189125 @default.
- W2183612879 cites W1961673289 @default.
- W2183612879 cites W1986941374 @default.
- W2183612879 cites W2025185410 @default.
- W2183612879 cites W2045147239 @default.
- W2183612879 cites W2050527189 @default.
- W2183612879 cites W2052149864 @default.
- W2183612879 cites W2073508337 @default.
- W2183612879 cites W2080704410 @default.
- W2183612879 cites W2120613619 @default.
- W2183612879 cites W2399123663 @default.
- W2183612879 cites W2799137111 @default.
- W2183612879 cites W608023872 @default.
- W2183612879 doi "https://doi.org/10.1080/09723757.2001.11885761" @default.
- W2183612879 hasPublicationYear "2001" @default.
- W2183612879 type Work @default.
- W2183612879 sameAs 2183612879 @default.
- W2183612879 citedByCount "2" @default.
- W2183612879 countsByYear W21836128792017 @default.
- W2183612879 crossrefType "journal-article" @default.
- W2183612879 hasAuthorship W2183612879A5019314045 @default.
- W2183612879 hasAuthorship W2183612879A5035841408 @default.
- W2183612879 hasAuthorship W2183612879A5042899941 @default.
- W2183612879 hasAuthorship W2183612879A5048763600 @default.
- W2183612879 hasAuthorship W2183612879A5089219803 @default.
- W2183612879 hasConcept C118552586 @default.
- W2183612879 hasConcept C120665830 @default.
- W2183612879 hasConcept C121332964 @default.
- W2183612879 hasConcept C126322002 @default.
- W2183612879 hasConcept C137627325 @default.
- W2183612879 hasConcept C187212893 @default.
- W2183612879 hasConcept C2776169613 @default.
- W2183612879 hasConcept C2779923321 @default.
- W2183612879 hasConcept C2908647359 @default.
- W2183612879 hasConcept C50965678 @default.
- W2183612879 hasConcept C61511704 @default.
- W2183612879 hasConcept C71924100 @default.
- W2183612879 hasConcept C99454951 @default.
- W2183612879 hasConceptScore W2183612879C118552586 @default.
- W2183612879 hasConceptScore W2183612879C120665830 @default.
- W2183612879 hasConceptScore W2183612879C121332964 @default.
- W2183612879 hasConceptScore W2183612879C126322002 @default.
- W2183612879 hasConceptScore W2183612879C137627325 @default.
- W2183612879 hasConceptScore W2183612879C187212893 @default.
- W2183612879 hasConceptScore W2183612879C2776169613 @default.
- W2183612879 hasConceptScore W2183612879C2779923321 @default.
- W2183612879 hasConceptScore W2183612879C2908647359 @default.
- W2183612879 hasConceptScore W2183612879C50965678 @default.
- W2183612879 hasConceptScore W2183612879C61511704 @default.
- W2183612879 hasConceptScore W2183612879C71924100 @default.
- W2183612879 hasConceptScore W2183612879C99454951 @default.
- W2183612879 hasLocation W21836128791 @default.
- W2183612879 hasOpenAccess W2183612879 @default.
- W2183612879 hasPrimaryLocation W21836128791 @default.
- W2183612879 hasRelatedWork W2058478218 @default.
- W2183612879 hasRelatedWork W2103146235 @default.
- W2183612879 hasRelatedWork W2106198861 @default.
- W2183612879 hasRelatedWork W2148528534 @default.
- W2183612879 hasRelatedWork W2405885882 @default.
- W2183612879 hasRelatedWork W2418503561 @default.
- W2183612879 hasRelatedWork W2801859697 @default.
- W2183612879 hasRelatedWork W3200033533 @default.
- W2183612879 hasRelatedWork W2182112795 @default.
- W2183612879 isParatext "false" @default.
- W2183612879 isRetracted "false" @default.
- W2183612879 magId "2183612879" @default.
- W2183612879 workType "article" @default.