Matches in SemOpenAlex for { <https://semopenalex.org/work/W2142843668> ?p ?o ?g. }
- W2142843668 endingPage "230" @default.
- W2142843668 startingPage "215" @default.
- W2142843668 abstract "Twelve individuals have been described with glycerol kinase deficiency. Five of these individuals are adults who were noted incidentally to have pseudohypertriglyceridemia. Six of these individuals are children who manifest a clinical complex which includes adrenal hypoplasia/insufficiency and developmental delay. Another child has intermittent coma, a normal IQ, and no evidence of adrenal insufficiency. Genetic and biochemical hypotheses are proposed to explain this clinical variability. Glycerol kinase binds specifically and reversibly to the porin, the pore-forming protein of the outer mitochondrial membrane, which also binds hexokinase. Mutations affecting any component of this kinase-binding system will alter the properties of this system. Glycerol kinase deficiency, as an inborn error of this compartmented metabolic system, offers an investigational opportunity for studying this microenvironment." @default.
- W2142843668 created "2016-06-24" @default.
- W2142843668 creator A5071150922 @default.
- W2142843668 date "1983-10-01" @default.
- W2142843668 modified "2023-10-16" @default.
- W2142843668 title "Human glycerol kinase deficiency: An inborn error of compartmental metabolism" @default.
- W2142843668 cites W126810296 @default.
- W2142843668 cites W139424415 @default.
- W2142843668 cites W1482090517 @default.
- W2142843668 cites W1499418040 @default.
- W2142843668 cites W1501282895 @default.
- W2142843668 cites W1578523518 @default.
- W2142843668 cites W1588772428 @default.
- W2142843668 cites W1710748722 @default.
- W2142843668 cites W1776938986 @default.
- W2142843668 cites W188366741 @default.
- W2142843668 cites W1891717208 @default.
- W2142843668 cites W1912085582 @default.
- W2142843668 cites W1966974946 @default.
- W2142843668 cites W1968644063 @default.
- W2142843668 cites W1970881828 @default.
- W2142843668 cites W1972399740 @default.
- W2142843668 cites W1975759138 @default.
- W2142843668 cites W1978235226 @default.
- W2142843668 cites W1978503564 @default.
- W2142843668 cites W1985664042 @default.
- W2142843668 cites W1987980063 @default.
- W2142843668 cites W1995727830 @default.
- W2142843668 cites W1996040682 @default.
- W2142843668 cites W1998252243 @default.
- W2142843668 cites W1999060861 @default.
- W2142843668 cites W2002448689 @default.
- W2142843668 cites W2002730103 @default.
- W2142843668 cites W2003331874 @default.
- W2142843668 cites W2004464625 @default.
- W2142843668 cites W2006442668 @default.
- W2142843668 cites W2011029297 @default.
- W2142843668 cites W2015654852 @default.
- W2142843668 cites W2019377380 @default.
- W2142843668 cites W2029161752 @default.
- W2142843668 cites W2031942239 @default.
- W2142843668 cites W2037492077 @default.
- W2142843668 cites W2038705289 @default.
- W2142843668 cites W2038880126 @default.
- W2142843668 cites W2041544296 @default.
- W2142843668 cites W2048609504 @default.
- W2142843668 cites W2051422734 @default.
- W2142843668 cites W2056739157 @default.
- W2142843668 cites W2058540836 @default.
- W2142843668 cites W2058833755 @default.
- W2142843668 cites W2059990648 @default.
- W2142843668 cites W2060847386 @default.
- W2142843668 cites W2066199028 @default.
- W2142843668 cites W2070247762 @default.
- W2142843668 cites W2071071821 @default.
- W2142843668 cites W2071600014 @default.
- W2142843668 cites W2072962948 @default.
- W2142843668 cites W2076010255 @default.
- W2142843668 cites W2076222021 @default.
- W2142843668 cites W2083260212 @default.
- W2142843668 cites W2085226328 @default.
- W2142843668 cites W2086238307 @default.
- W2142843668 cites W2087922339 @default.
- W2142843668 cites W2115012181 @default.
- W2142843668 cites W2138010663 @default.
- W2142843668 cites W2142056823 @default.
- W2142843668 cites W2150505189 @default.
- W2142843668 cites W2163264418 @default.
- W2142843668 cites W2293779547 @default.
- W2142843668 cites W2312453533 @default.
- W2142843668 cites W2325265671 @default.
- W2142843668 cites W2344651742 @default.
- W2142843668 cites W2414239824 @default.
- W2142843668 cites W4213205274 @default.
- W2142843668 cites W4252218832 @default.
- W2142843668 cites W52637993 @default.
- W2142843668 cites W62208249 @default.
- W2142843668 cites W9781989 @default.
- W2142843668 doi "https://doi.org/10.1016/0006-2944(83)90088-1" @default.
- W2142843668 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/6316939" @default.
- W2142843668 hasPublicationYear "1983" @default.
- W2142843668 type Work @default.
- W2142843668 sameAs 2142843668 @default.
- W2142843668 citedByCount "62" @default.
- W2142843668 countsByYear W21428436682014 @default.
- W2142843668 countsByYear W21428436682016 @default.
- W2142843668 countsByYear W21428436682017 @default.
- W2142843668 countsByYear W21428436682023 @default.
- W2142843668 crossrefType "journal-article" @default.
- W2142843668 hasAuthorship W2142843668A5071150922 @default.
- W2142843668 hasConcept C126322002 @default.
- W2142843668 hasConcept C134018914 @default.
- W2142843668 hasConcept C184235292 @default.
- W2142843668 hasConcept C20251656 @default.
- W2142843668 hasConcept C2779646400 @default.
- W2142843668 hasConcept C2779826832 @default.
- W2142843668 hasConcept C2780282346 @default.
- W2142843668 hasConcept C2780881558 @default.