FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2007121611> ?p ?o ?g. }

• W2007121611 endingPage "943" @default.
• W2007121611 startingPage "943" @default.
• W2007121611 abstract "Short-chain acyl-coenzyme A (CoA) dehydrogenase (SCAD) deficiency (SCADD) is an autosomal recessive, clinically heterogeneous disorder with only 22 case reports published so far. Screening for SCADD is included in expanded newborn screening programs in most US and Australian states.To describe the genetic, biochemical, and clinical characteristics of SCADD patients in the Netherlands and their SCADD relatives and to explore the genotype to phenotype relation.Retrospective study involving 31 Dutch SCADD patients diagnosed between January 1987 and January 2006 and 8 SCADD relatives. SCADD was defined by the presence of (1) increased butyrylcarnitine (C4-C) levels in plasma and/or increased ethylmalonic acid (EMA) levels in urine under nonstressed conditions on at least 2 occasions, in combination with (2) a mutation and/or the c.511C>T or c.625G>A susceptibility variants on each SCAD-encoding (ACADS) allele. Patients were included only if the SCAD-encoding (ACADS) was fully sequenced and if current clinical information could be obtained. Relatives were included when they carried the same ACADS genotype as the proband, and had increased C4-C and/or EMA.Prevalence, genotype (mutation/mutation, mutation/variant, variant/variant), C4-C and EMA levels, clinical signs and symptoms, and clinical course.A birth-prevalence of at least 1:50,000 was calculated. Most patients presented before the age of 3 years, with nonspecific, generally uncomplicated, and often transient symptoms. Developmental delay, epilepsy, behavioral disturbances, and hypoglycemia were the most frequently reported symptoms. The ACADS genotype showed a statistically significant association with EMA and C4-C levels, but not with clinical characteristics. Seven out of 8 SCADD relatives were free of symptoms.SCADD is far more common than assumed previously, and clinical symptoms in SCADD are nonspecific, generally uncomplicated, often transient, and not correlated with specific ACADS genotypes. Because SCADD does not meet major newborn screening criteria, including a lack of clinical significance in many patients and that it is not possible to differentiate diseased and nondiseased individuals, it is not suited for inclusion in newborn screening programs at the present time." @default.
• W2007121611 created "2016-06-24" @default.
• W2007121611 creator A5011608325 @default.
• W2007121611 creator A5040743356 @default.
• W2007121611 creator A5045909899 @default.
• W2007121611 creator A5057865344 @default.
• W2007121611 creator A5084387307 @default.
• W2007121611 creator A5084438651 @default.
• W2007121611 creator A5087611764 @default.
• W2007121611 creator A5088954339 @default.
• W2007121611 date "2006-08-23" @default.
• W2007121611 modified "2023-10-10" @default.
• W2007121611 title "Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency" @default.
• W2007121611 cites W1549090036 @default.
• W2007121611 cites W1585819121 @default.
• W2007121611 cites W1962504743 @default.
• W2007121611 cites W1970787414 @default.
• W2007121611 cites W1975525452 @default.
• W2007121611 cites W1975993023 @default.
• W2007121611 cites W1981454414 @default.
• W2007121611 cites W1984865227 @default.
• W2007121611 cites W1987596987 @default.
• W2007121611 cites W1990080519 @default.
• W2007121611 cites W2004235323 @default.
• W2007121611 cites W2009595895 @default.
• W2007121611 cites W2028805130 @default.
• W2007121611 cites W2029440165 @default.
• W2007121611 cites W2034742154 @default.
• W2007121611 cites W2041045186 @default.
• W2007121611 cites W2044279619 @default.
• W2007121611 cites W2045635936 @default.
• W2007121611 cites W2047178010 @default.
• W2007121611 cites W2048710380 @default.
• W2007121611 cites W2054138087 @default.
• W2007121611 cites W2059332073 @default.
• W2007121611 cites W2073177465 @default.
• W2007121611 cites W2089320773 @default.
• W2007121611 cites W2092169518 @default.
• W2007121611 cites W2096386493 @default.
• W2007121611 cites W2105161385 @default.
• W2007121611 cites W2116729076 @default.
• W2007121611 cites W2119071616 @default.
• W2007121611 cites W2161934719 @default.
• W2007121611 cites W2167112977 @default.
• W2007121611 cites W2167544666 @default.
• W2007121611 cites W2170438622 @default.
• W2007121611 cites W278733805 @default.
• W2007121611 cites W302123003 @default.
• W2007121611 cites W3123582176 @default.
• W2007121611 doi "https://doi.org/10.1001/jama.296.8.943" @default.
• W2007121611 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16926354" @default.
• W2007121611 hasPublicationYear "2006" @default.
• W2007121611 type Work @default.
• W2007121611 sameAs 2007121611 @default.
• W2007121611 citedByCount "131" @default.
• W2007121611 countsByYear W20071216112012 @default.
• W2007121611 countsByYear W20071216112013 @default.
• W2007121611 countsByYear W20071216112014 @default.
• W2007121611 countsByYear W20071216112015 @default.
• W2007121611 countsByYear W20071216112016 @default.
• W2007121611 countsByYear W20071216112017 @default.
• W2007121611 countsByYear W20071216112018 @default.
• W2007121611 countsByYear W20071216112019 @default.
• W2007121611 countsByYear W20071216112020 @default.
• W2007121611 countsByYear W20071216112021 @default.
• W2007121611 countsByYear W20071216112022 @default.
• W2007121611 countsByYear W20071216112023 @default.
• W2007121611 crossrefType "journal-article" @default.
• W2007121611 hasAuthorship W2007121611A5011608325 @default.
• W2007121611 hasAuthorship W2007121611A5040743356 @default.
• W2007121611 hasAuthorship W2007121611A5045909899 @default.
• W2007121611 hasAuthorship W2007121611A5057865344 @default.
• W2007121611 hasAuthorship W2007121611A5084387307 @default.
• W2007121611 hasAuthorship W2007121611A5084438651 @default.
• W2007121611 hasAuthorship W2007121611A5087611764 @default.
• W2007121611 hasAuthorship W2007121611A5088954339 @default.
• W2007121611 hasConcept C104317684 @default.
• W2007121611 hasConcept C12125453 @default.
• W2007121611 hasConcept C126322002 @default.
• W2007121611 hasConcept C134018914 @default.
• W2007121611 hasConcept C135763542 @default.
• W2007121611 hasConcept C180754005 @default.
• W2007121611 hasConcept C187212893 @default.
• W2007121611 hasConcept C188997412 @default.
• W2007121611 hasConcept C2776857174 @default.
• W2007121611 hasConcept C500558357 @default.
• W2007121611 hasConcept C501734568 @default.
• W2007121611 hasConcept C54355233 @default.
• W2007121611 hasConcept C71924100 @default.
• W2007121611 hasConcept C86803240 @default.
• W2007121611 hasConcept C90924648 @default.
• W2007121611 hasConceptScore W2007121611C104317684 @default.
• W2007121611 hasConceptScore W2007121611C12125453 @default.
• W2007121611 hasConceptScore W2007121611C126322002 @default.
• W2007121611 hasConceptScore W2007121611C134018914 @default.
• W2007121611 hasConceptScore W2007121611C135763542 @default.
• W2007121611 hasConceptScore W2007121611C180754005 @default.
• W2007121611 hasConceptScore W2007121611C187212893 @default.

• next