Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387033557> ?p ?o ?g. }
- W4387033557 abstract "Brunner syndrome is a recessive X-linked disorder caused by pathogenic variants in the monoamine oxidase A gene (MAOA). It is characterized by distinctive aggressive behavior, mild intellectual disability, sleep disturbances, and typical biochemical alterations deriving from the impaired monoamine metabolism. We herein describe a 5-year-old boy with developmental delay, autistic features, and myoclonic epilepsy, and his mother, who had mild intellectual disability and recurrent episodes of palpitations, headache, abdominal pain, and abdominal bloating. Whole exome sequencing allowed detection of the maternally-inherited variant c.410A>G, (p.Glu137Gly) in the MAOA gene. The subsequent biochemical studies confirmed the MAOA deficiency both in the child and his mother. Given the serotonergic symptoms associated with high serotonin levels found in the mother, treatment with a serotonin reuptake inhibitor and dietary modifications were carried out, resulting in regression of the biochemical abnormalities and partial reduction of symptoms. Our report expands the phenotypic spectrum of Brunner disease, bringing new perspectives on the behavioral and neurodevelopmental phenotype from childhood to adulthood." @default.
- W4387033557 created "2023-09-27" @default.
- W4387033557 creator A5009347088 @default.
- W4387033557 creator A5022210828 @default.
- W4387033557 creator A5025518179 @default.
- W4387033557 creator A5041124415 @default.
- W4387033557 creator A5042054313 @default.
- W4387033557 creator A5042852273 @default.
- W4387033557 creator A5042999203 @default.
- W4387033557 creator A5053867192 @default.
- W4387033557 creator A5066281636 @default.
- W4387033557 creator A5074060099 @default.
- W4387033557 creator A5081304321 @default.
- W4387033557 creator A5086909836 @default.
- W4387033557 creator A5092939502 @default.
- W4387033557 date "2023-09-26" @default.
- W4387033557 modified "2023-09-27" @default.
- W4387033557 title "Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother" @default.
- W4387033557 cites W1964805904 @default.
- W4387033557 cites W1982235280 @default.
- W4387033557 cites W2000474355 @default.
- W4387033557 cites W2004175153 @default.
- W4387033557 cites W2009377180 @default.
- W4387033557 cites W2037246149 @default.
- W4387033557 cites W2041086548 @default.
- W4387033557 cites W2051978340 @default.
- W4387033557 cites W2071150481 @default.
- W4387033557 cites W2085936836 @default.
- W4387033557 cites W2119125260 @default.
- W4387033557 cites W2128964111 @default.
- W4387033557 cites W2135839625 @default.
- W4387033557 cites W2149472336 @default.
- W4387033557 cites W2162896169 @default.
- W4387033557 cites W2167345246 @default.
- W4387033557 cites W2799849376 @default.
- W4387033557 cites W4200048735 @default.
- W4387033557 doi "https://doi.org/10.1002/ajmg.a.63413" @default.
- W4387033557 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37750385" @default.
- W4387033557 hasPublicationYear "2023" @default.
- W4387033557 type Work @default.
- W4387033557 citedByCount "0" @default.
- W4387033557 crossrefType "journal-article" @default.
- W4387033557 hasAuthorship W4387033557A5009347088 @default.
- W4387033557 hasAuthorship W4387033557A5022210828 @default.
- W4387033557 hasAuthorship W4387033557A5025518179 @default.
- W4387033557 hasAuthorship W4387033557A5041124415 @default.
- W4387033557 hasAuthorship W4387033557A5042054313 @default.
- W4387033557 hasAuthorship W4387033557A5042852273 @default.
- W4387033557 hasAuthorship W4387033557A5042999203 @default.
- W4387033557 hasAuthorship W4387033557A5053867192 @default.
- W4387033557 hasAuthorship W4387033557A5066281636 @default.
- W4387033557 hasAuthorship W4387033557A5074060099 @default.
- W4387033557 hasAuthorship W4387033557A5081304321 @default.
- W4387033557 hasAuthorship W4387033557A5086909836 @default.
- W4387033557 hasAuthorship W4387033557A5092939502 @default.
- W4387033557 hasConcept C104317684 @default.
- W4387033557 hasConcept C114461151 @default.
- W4387033557 hasConcept C118552586 @default.
- W4387033557 hasConcept C126322002 @default.
- W4387033557 hasConcept C127716648 @default.
- W4387033557 hasConcept C134018914 @default.
- W4387033557 hasConcept C15744967 @default.
- W4387033557 hasConcept C16671776 @default.
- W4387033557 hasConcept C170493617 @default.
- W4387033557 hasConcept C187212893 @default.
- W4387033557 hasConcept C2775864247 @default.
- W4387033557 hasConcept C37000724 @default.
- W4387033557 hasConcept C54355233 @default.
- W4387033557 hasConcept C551499885 @default.
- W4387033557 hasConcept C71924100 @default.
- W4387033557 hasConcept C86803240 @default.
- W4387033557 hasConceptScore W4387033557C104317684 @default.
- W4387033557 hasConceptScore W4387033557C114461151 @default.
- W4387033557 hasConceptScore W4387033557C118552586 @default.
- W4387033557 hasConceptScore W4387033557C126322002 @default.
- W4387033557 hasConceptScore W4387033557C127716648 @default.
- W4387033557 hasConceptScore W4387033557C134018914 @default.
- W4387033557 hasConceptScore W4387033557C15744967 @default.
- W4387033557 hasConceptScore W4387033557C16671776 @default.
- W4387033557 hasConceptScore W4387033557C170493617 @default.
- W4387033557 hasConceptScore W4387033557C187212893 @default.
- W4387033557 hasConceptScore W4387033557C2775864247 @default.
- W4387033557 hasConceptScore W4387033557C37000724 @default.
- W4387033557 hasConceptScore W4387033557C54355233 @default.
- W4387033557 hasConceptScore W4387033557C551499885 @default.
- W4387033557 hasConceptScore W4387033557C71924100 @default.
- W4387033557 hasConceptScore W4387033557C86803240 @default.
- W4387033557 hasLocation W43870335571 @default.
- W4387033557 hasLocation W43870335572 @default.
- W4387033557 hasOpenAccess W4387033557 @default.
- W4387033557 hasPrimaryLocation W43870335571 @default.
- W4387033557 hasRelatedWork W1978727843 @default.
- W4387033557 hasRelatedWork W1984841954 @default.
- W4387033557 hasRelatedWork W2013512514 @default.
- W4387033557 hasRelatedWork W2050824222 @default.
- W4387033557 hasRelatedWork W2076129551 @default.
- W4387033557 hasRelatedWork W2087454008 @default.
- W4387033557 hasRelatedWork W2107899720 @default.
- W4387033557 hasRelatedWork W2135947744 @default.
- W4387033557 hasRelatedWork W2748952813 @default.