FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2026971330> ?p ?o ?g. }

• W2026971330 endingPage "1133" @default.
• W2026971330 startingPage "1127" @default.
• W2026971330 abstract "Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for creatine formation. In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency was identified as a new genetic defect in creatine metabolism. A homozygous G-A transition at nucleotide position 9297, converting a tryptophan codon (TGG) to a stop codon (TAG) at residue 149 (T149X), resulted in undetectable cDNA, as investigated by reverse-transcription PCR, as well as in undetectable AGAT activity, as investigated radiochemically in cultivated skin fibroblasts and in virus-transformed lymphoblasts of the patients. The parents were heterozygous for the mutant allele, with intermediate residual AGAT activities. Recognition and treatment with oral creatine supplements may prevent neurological sequelae in affected patients." @default.
• W2026971330 created "2016-06-24" @default.
• W2026971330 creator A5001757278 @default.
• W2026971330 creator A5002520128 @default.
• W2026971330 creator A5005443468 @default.
• W2026971330 creator A5017946424 @default.
• W2026971330 creator A5035864474 @default.
• W2026971330 creator A5037111232 @default.
• W2026971330 creator A5046257500 @default.
• W2026971330 creator A5054534850 @default.
• W2026971330 creator A5073587937 @default.
• W2026971330 date "2001-11-01" @default.
• W2026971330 modified "2023-10-14" @default.
• W2026971330 title "Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans" @default.
• W2026971330 cites W108940605 @default.
• W2026971330 cites W1522079693 @default.
• W2026971330 cites W1547336749 @default.
• W2026971330 cites W1839550468 @default.
• W2026971330 cites W184861672 @default.
• W2026971330 cites W1889871926 @default.
• W2026971330 cites W2008210209 @default.
• W2026971330 cites W2010200226 @default.
• W2026971330 cites W2015834074 @default.
• W2026971330 cites W2021003191 @default.
• W2026971330 cites W2021138713 @default.
• W2026971330 cites W2024541373 @default.
• W2026971330 cites W2024590657 @default.
• W2026971330 cites W2026947381 @default.
• W2026971330 cites W2040933195 @default.
• W2026971330 cites W2042071604 @default.
• W2026971330 cites W2066372499 @default.
• W2026971330 cites W2086125248 @default.
• W2026971330 cites W2087041798 @default.
• W2026971330 cites W2090015966 @default.
• W2026971330 cites W2117067364 @default.
• W2026971330 cites W2120023072 @default.
• W2026971330 cites W2126713091 @default.
• W2026971330 cites W2148132533 @default.
• W2026971330 cites W2157889216 @default.
• W2026971330 cites W2158029720 @default.
• W2026971330 cites W4242016532 @default.
• W2026971330 doi "https://doi.org/10.1086/323765" @default.
• W2026971330 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1274356" @default.
• W2026971330 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11555793" @default.
• W2026971330 hasPublicationYear "2001" @default.
• W2026971330 type Work @default.
• W2026971330 sameAs 2026971330 @default.
• W2026971330 citedByCount "219" @default.
• W2026971330 countsByYear W20269713302012 @default.
• W2026971330 countsByYear W20269713302013 @default.
• W2026971330 countsByYear W20269713302014 @default.
• W2026971330 countsByYear W20269713302015 @default.
• W2026971330 countsByYear W20269713302016 @default.
• W2026971330 countsByYear W20269713302017 @default.
• W2026971330 countsByYear W20269713302018 @default.
• W2026971330 countsByYear W20269713302019 @default.
• W2026971330 countsByYear W20269713302020 @default.
• W2026971330 countsByYear W20269713302021 @default.
• W2026971330 countsByYear W20269713302022 @default.
• W2026971330 countsByYear W20269713302023 @default.
• W2026971330 crossrefType "journal-article" @default.
• W2026971330 hasAuthorship W2026971330A5001757278 @default.
• W2026971330 hasAuthorship W2026971330A5002520128 @default.
• W2026971330 hasAuthorship W2026971330A5005443468 @default.
• W2026971330 hasAuthorship W2026971330A5017946424 @default.
• W2026971330 hasAuthorship W2026971330A5035864474 @default.
• W2026971330 hasAuthorship W2026971330A5037111232 @default.
• W2026971330 hasAuthorship W2026971330A5046257500 @default.
• W2026971330 hasAuthorship W2026971330A5054534850 @default.
• W2026971330 hasAuthorship W2026971330A5073587937 @default.
• W2026971330 hasBestOaLocation W20269713301 @default.
• W2026971330 hasConcept C104317684 @default.
• W2026971330 hasConcept C126322002 @default.
• W2026971330 hasConcept C134018914 @default.
• W2026971330 hasConcept C143065580 @default.
• W2026971330 hasConcept C2777468819 @default.
• W2026971330 hasConcept C2777573094 @default.
• W2026971330 hasConcept C2777756961 @default.
• W2026971330 hasConcept C2778626300 @default.
• W2026971330 hasConcept C2779646400 @default.
• W2026971330 hasConcept C2779896295 @default.
• W2026971330 hasConcept C2779943223 @default.
• W2026971330 hasConcept C2986317502 @default.
• W2026971330 hasConcept C515207424 @default.
• W2026971330 hasConcept C55493867 @default.
• W2026971330 hasConcept C62231903 @default.
• W2026971330 hasConcept C71924100 @default.
• W2026971330 hasConcept C86803240 @default.
• W2026971330 hasConceptScore W2026971330C104317684 @default.
• W2026971330 hasConceptScore W2026971330C126322002 @default.
• W2026971330 hasConceptScore W2026971330C134018914 @default.
• W2026971330 hasConceptScore W2026971330C143065580 @default.
• W2026971330 hasConceptScore W2026971330C2777468819 @default.
• W2026971330 hasConceptScore W2026971330C2777573094 @default.
• W2026971330 hasConceptScore W2026971330C2777756961 @default.
• W2026971330 hasConceptScore W2026971330C2778626300 @default.
• W2026971330 hasConceptScore W2026971330C2779646400 @default.
• W2026971330 hasConceptScore W2026971330C2779896295 @default.

• next