FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2006971736> ?p ?o ?g. }

• W2006971736 endingPage "417" @default.
• W2006971736 startingPage "411" @default.
• W2006971736 abstract "In Finland, 19 children, born 1964--1977, from 13 families, have been diagnosed as suffering from nonketotic hyperglycinemia (NKH). This gives an incidence for NKH in the Finnish population of 1:55,000 newborns. The majority of these children were born in the northern part of the country, where the incidence is 1:12,000. The geographical distribution of the birth-places of the grandparents also seems to point towards an enrichment of the gene in northern Finland. An autosomal recessive mode of inheritance for this disease seems probable, since the corrected proportion of affected siblings (Apert's a priori method) is 0.288. Abnormally high plasma glycine concentration and elevated glycine urinary excretion in the parents of the NKH-children suggest the existence of a minor metabolic defect in heterozygotes of this disease. Some of the healthy siblings of the NKH-patients also show similary elevated levels. However, a definite diagnosis of the NKH-heterozygote state cannot easily be made on the basis of these laboratory findings, as the levels in some individuals are very close to, or even overlap corresponding values in a normal material." @default.
• W2006971736 created "2016-06-24" @default.
• W2006971736 creator A5033285566 @default.
• W2006971736 creator A5065747789 @default.
• W2006971736 creator A5072935339 @default.
• W2006971736 date "2008-04-23" @default.
• W2006971736 modified "2023-09-23" @default.
• W2006971736 title "Nonketotic hyperglycinemia A genetic study of 13 Finnish families" @default.
• W2006971736 cites W1978905778 @default.
• W2006971736 cites W1982828762 @default.
• W2006971736 cites W1985263493 @default.
• W2006971736 cites W1997261490 @default.
• W2006971736 cites W1999182331 @default.
• W2006971736 cites W2000729676 @default.
• W2006971736 cites W2000878351 @default.
• W2006971736 cites W2025550311 @default.
• W2006971736 cites W2026060373 @default.
• W2006971736 cites W2032307149 @default.
• W2006971736 cites W2039358273 @default.
• W2006971736 cites W2048445135 @default.
• W2006971736 cites W2067097339 @default.
• W2006971736 cites W2083858156 @default.
• W2006971736 cites W2162048363 @default.
• W2006971736 cites W2329245002 @default.
• W2006971736 cites W3026197138 @default.
• W2006971736 cites W4249829770 @default.
• W2006971736 cites W2052903131 @default.
• W2006971736 doi "https://doi.org/10.1111/j.1399-0004.1979.tb01773.x" @default.
• W2006971736 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/445864" @default.
• W2006971736 hasPublicationYear "2008" @default.
• W2006971736 type Work @default.
• W2006971736 sameAs 2006971736 @default.
• W2006971736 citedByCount "40" @default.
• W2006971736 countsByYear W20069717362012 @default.
• W2006971736 countsByYear W20069717362014 @default.
• W2006971736 countsByYear W20069717362015 @default.
• W2006971736 countsByYear W20069717362016 @default.
• W2006971736 countsByYear W20069717362017 @default.
• W2006971736 countsByYear W20069717362018 @default.
• W2006971736 countsByYear W20069717362020 @default.
• W2006971736 countsByYear W20069717362021 @default.
• W2006971736 crossrefType "journal-article" @default.
• W2006971736 hasAuthorship W2006971736A5033285566 @default.
• W2006971736 hasAuthorship W2006971736A5065747789 @default.
• W2006971736 hasAuthorship W2006971736A5072935339 @default.
• W2006971736 hasConcept C104317684 @default.
• W2006971736 hasConcept C116190364 @default.
• W2006971736 hasConcept C120665830 @default.
• W2006971736 hasConcept C121332964 @default.
• W2006971736 hasConcept C135763542 @default.
• W2006971736 hasConcept C138496976 @default.
• W2006971736 hasConcept C153471976 @default.
• W2006971736 hasConcept C15744967 @default.
• W2006971736 hasConcept C187212893 @default.
• W2006971736 hasConcept C2777756961 @default.
• W2006971736 hasConcept C2779923321 @default.
• W2006971736 hasConcept C2781185993 @default.
• W2006971736 hasConcept C2908647359 @default.
• W2006971736 hasConcept C2910862020 @default.
• W2006971736 hasConcept C515207424 @default.
• W2006971736 hasConcept C54355233 @default.
• W2006971736 hasConcept C61511704 @default.
• W2006971736 hasConcept C71924100 @default.
• W2006971736 hasConcept C86803240 @default.
• W2006971736 hasConcept C99454951 @default.
• W2006971736 hasConceptScore W2006971736C104317684 @default.
• W2006971736 hasConceptScore W2006971736C116190364 @default.
• W2006971736 hasConceptScore W2006971736C120665830 @default.
• W2006971736 hasConceptScore W2006971736C121332964 @default.
• W2006971736 hasConceptScore W2006971736C135763542 @default.
• W2006971736 hasConceptScore W2006971736C138496976 @default.
• W2006971736 hasConceptScore W2006971736C153471976 @default.
• W2006971736 hasConceptScore W2006971736C15744967 @default.
• W2006971736 hasConceptScore W2006971736C187212893 @default.
• W2006971736 hasConceptScore W2006971736C2777756961 @default.
• W2006971736 hasConceptScore W2006971736C2779923321 @default.
• W2006971736 hasConceptScore W2006971736C2781185993 @default.
• W2006971736 hasConceptScore W2006971736C2908647359 @default.
• W2006971736 hasConceptScore W2006971736C2910862020 @default.
• W2006971736 hasConceptScore W2006971736C515207424 @default.
• W2006971736 hasConceptScore W2006971736C54355233 @default.
• W2006971736 hasConceptScore W2006971736C61511704 @default.
• W2006971736 hasConceptScore W2006971736C71924100 @default.
• W2006971736 hasConceptScore W2006971736C86803240 @default.
• W2006971736 hasConceptScore W2006971736C99454951 @default.
• W2006971736 hasIssue "5" @default.
• W2006971736 hasLocation W20069717361 @default.
• W2006971736 hasLocation W20069717362 @default.
• W2006971736 hasOpenAccess W2006971736 @default.
• W2006971736 hasPrimaryLocation W20069717361 @default.
• W2006971736 hasRelatedWork W168580425 @default.
• W2006971736 hasRelatedWork W1969213707 @default.
• W2006971736 hasRelatedWork W2006971736 @default.
• W2006971736 hasRelatedWork W2039110787 @default.
• W2006971736 hasRelatedWork W2061103037 @default.
• W2006971736 hasRelatedWork W2080801465 @default.
• W2006971736 hasRelatedWork W2083700048 @default.
• W2006971736 hasRelatedWork W2084460759 @default.

• next