FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200464493> ?p ?o ?g. }

• W4200464493 endingPage "198" @default.
• W4200464493 startingPage "190" @default.
• W4200464493 abstract "Purines are essential molecules that are components of vital biomolecules, such as nucleic acids, coenzymes, signaling molecules, as well as energy transfer molecules. The de novo biosynthesis pathway starts from phosphoribosylpyrophosphate (PRPP) and eventually leads to the synthesis of inosine monophosphate (IMP) by means of 10 sequential steps catalyzed by six different enzymes, three of which are bi-or tri-functional in nature. IMP is then converted into guanosine monophosphate (GMP) or adenosine monophosphate (AMP), which are further phosphorylated into nucleoside di- or tri-phosphates, such as GDP, GTP, ADP and ATP. This review provides an overview of inborn errors of metabolism pertaining to purine synthesis in humans, including either phosphoribosylpyrophosphate synthetase (PRS) overactivity or deficiency, as well as adenylosuccinate lyase (ADSL), 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS), and adenylosuccinate synthetase (ADSS) deficiencies. ITPase deficiency is being described as well. The clinical spectrum of these disorders is broad, including neurological impairment, such as psychomotor retardation, epilepsy, hypotonia, or microcephaly; sensory involvement, such as deafness and visual disturbances; multiple malformations, as well as muscle presentations or consequences of hyperuricemia, such as gouty arthritis or kidney stones. Clinical signs are often nonspecific and, thus, overlooked. It is to be hoped that this is likely to be gradually overcome by using sensitive biochemical investigations and next-generation sequencing technologies." @default.
• W4200464493 created "2021-12-31" @default.
• W4200464493 creator A5008435063 @default.
• W4200464493 creator A5009736454 @default.
• W4200464493 creator A5010006440 @default.
• W4200464493 date "2022-07-01" @default.
• W4200464493 modified "2023-10-13" @default.
• W4200464493 title "Disorders of purine biosynthesis metabolism" @default.
• W4200464493 cites W1596044300 @default.
• W4200464493 cites W1601835947 @default.
• W4200464493 cites W1947866589 @default.
• W4200464493 cites W1968315432 @default.
• W4200464493 cites W1969257535 @default.
• W4200464493 cites W1970650235 @default.
• W4200464493 cites W1972180206 @default.
• W4200464493 cites W1983377872 @default.
• W4200464493 cites W1991503000 @default.
• W4200464493 cites W2005555538 @default.
• W4200464493 cites W2005944018 @default.
• W4200464493 cites W2021468876 @default.
• W4200464493 cites W2022994031 @default.
• W4200464493 cites W2023648193 @default.
• W4200464493 cites W2037984386 @default.
• W4200464493 cites W2040208774 @default.
• W4200464493 cites W2040366777 @default.
• W4200464493 cites W2042621835 @default.
• W4200464493 cites W2048190533 @default.
• W4200464493 cites W2061299884 @default.
• W4200464493 cites W2068811090 @default.
• W4200464493 cites W2073395019 @default.
• W4200464493 cites W2076899317 @default.
• W4200464493 cites W2108562530 @default.
• W4200464493 cites W2108607187 @default.
• W4200464493 cites W2162026619 @default.
• W4200464493 cites W2162089794 @default.
• W4200464493 cites W2166370143 @default.
• W4200464493 cites W2168048899 @default.
• W4200464493 cites W2172087298 @default.
• W4200464493 cites W2509268949 @default.
• W4200464493 cites W2739334481 @default.
• W4200464493 cites W2743863055 @default.
• W4200464493 cites W2763532155 @default.
• W4200464493 cites W2779925056 @default.
• W4200464493 cites W2791064784 @default.
• W4200464493 cites W2918936363 @default.
• W4200464493 cites W2949493292 @default.
• W4200464493 cites W2979294193 @default.
• W4200464493 cites W2983856535 @default.
• W4200464493 cites W2987701831 @default.
• W4200464493 cites W2990610391 @default.
• W4200464493 cites W3005688506 @default.
• W4200464493 cites W3017240771 @default.
• W4200464493 cites W3036886057 @default.
• W4200464493 cites W3041286547 @default.
• W4200464493 cites W3048004813 @default.
• W4200464493 cites W3126380323 @default.
• W4200464493 cites W3132928316 @default.
• W4200464493 cites W3135758045 @default.
• W4200464493 cites W3153296386 @default.
• W4200464493 cites W3178002061 @default.
• W4200464493 cites W3187019700 @default.
• W4200464493 doi "https://doi.org/10.1016/j.ymgme.2021.12.016" @default.
• W4200464493 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34998670" @default.
• W4200464493 hasPublicationYear "2022" @default.
• W4200464493 type Work @default.
• W4200464493 citedByCount "21" @default.
• W4200464493 countsByYear W42004644932022 @default.
• W4200464493 countsByYear W42004644932023 @default.
• W4200464493 crossrefType "journal-article" @default.
• W4200464493 hasAuthorship W4200464493A5008435063 @default.
• W4200464493 hasAuthorship W4200464493A5009736454 @default.
• W4200464493 hasAuthorship W4200464493A5010006440 @default.
• W4200464493 hasConcept C104317684 @default.
• W4200464493 hasConcept C169586020 @default.
• W4200464493 hasConcept C181199279 @default.
• W4200464493 hasConcept C185592680 @default.
• W4200464493 hasConcept C2776111186 @default.
• W4200464493 hasConcept C2776476023 @default.
• W4200464493 hasConcept C2777610669 @default.
• W4200464493 hasConcept C2777995097 @default.
• W4200464493 hasConcept C2909748322 @default.
• W4200464493 hasConcept C512185932 @default.
• W4200464493 hasConcept C55493867 @default.
• W4200464493 hasConcept C71615608 @default.
• W4200464493 hasConcept C86803240 @default.
• W4200464493 hasConceptScore W4200464493C104317684 @default.
• W4200464493 hasConceptScore W4200464493C169586020 @default.
• W4200464493 hasConceptScore W4200464493C181199279 @default.
• W4200464493 hasConceptScore W4200464493C185592680 @default.
• W4200464493 hasConceptScore W4200464493C2776111186 @default.
• W4200464493 hasConceptScore W4200464493C2776476023 @default.
• W4200464493 hasConceptScore W4200464493C2777610669 @default.
• W4200464493 hasConceptScore W4200464493C2777995097 @default.
• W4200464493 hasConceptScore W4200464493C2909748322 @default.
• W4200464493 hasConceptScore W4200464493C512185932 @default.
• W4200464493 hasConceptScore W4200464493C55493867 @default.
• W4200464493 hasConceptScore W4200464493C71615608 @default.
• W4200464493 hasConceptScore W4200464493C86803240 @default.

• next