Matches in SemOpenAlex for { <https://semopenalex.org/work/W3153476287> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W3153476287 endingPage "1044" @default.
- W3153476287 startingPage "1039" @default.
- W3153476287 abstract ": Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disease which leads to a combined deficiency of molybdenum cofactor dependent enzymes. There are four different genes in molybdenum cofactor biosynthesis, MOCS1, MOCS2, MOCS3, GEPH. The patients with MOCS2 homozygous mutation who onset in the neonatal period always have severe seizures, feeding difficulties, progressive neurological deterioration. The incidence of the disease is low, and certain types have never been reported in China. Here, we present a Chinese term infant with MOCS2 who presented seizure, intolerance to feed and hypotonia on the third day after birth. Treatment included intravenous nutrition, antibiotic, and anticonvulsant therapy. The seizure can’t be controlled and her encephalopathy progressed. A homozygous mutation in exon 4 in MOSC2 gene was found and the mutation of the patient has not been reported before. In conclusion, the patients with MOCS2 who onset in neonatal period often shows uncontrolled seizure, feeding difficulties, hypotonia and early death. And the MRI of them shows severe encephalomalacia. There is no treatment for the disease by now, but early diagnosis and genetic detection can give the family genetic counseling." @default.
- W3153476287 created "2021-04-26" @default.
- W3153476287 creator A5012737433 @default.
- W3153476287 creator A5024562487 @default.
- W3153476287 creator A5030458072 @default.
- W3153476287 creator A5036305472 @default.
- W3153476287 creator A5047989462 @default.
- W3153476287 creator A5052408716 @default.
- W3153476287 creator A5072970862 @default.
- W3153476287 date "2021-04-01" @default.
- W3153476287 modified "2023-09-27" @default.
- W3153476287 title "A neonate with molybdenum cofactor deficiency type B" @default.
- W3153476287 cites W1506035512 @default.
- W3153476287 cites W1851822271 @default.
- W3153476287 cites W1988280472 @default.
- W3153476287 cites W1995962933 @default.
- W3153476287 cites W2003734527 @default.
- W3153476287 cites W2030110944 @default.
- W3153476287 cites W2052569753 @default.
- W3153476287 cites W2053720947 @default.
- W3153476287 cites W2068201165 @default.
- W3153476287 cites W2125167497 @default.
- W3153476287 cites W2138998979 @default.
- W3153476287 cites W2142024525 @default.
- W3153476287 cites W2159117659 @default.
- W3153476287 cites W2165498925 @default.
- W3153476287 cites W2600411253 @default.
- W3153476287 cites W2614694672 @default.
- W3153476287 cites W2620536965 @default.
- W3153476287 cites W2756015553 @default.
- W3153476287 cites W2943068374 @default.
- W3153476287 cites W2173242010 @default.
- W3153476287 doi "https://doi.org/10.21037/tp-20-357" @default.
- W3153476287 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8107882" @default.
- W3153476287 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34012852" @default.
- W3153476287 hasPublicationYear "2021" @default.
- W3153476287 type Work @default.
- W3153476287 sameAs 3153476287 @default.
- W3153476287 citedByCount "4" @default.
- W3153476287 countsByYear W31534762872022 @default.
- W3153476287 countsByYear W31534762872023 @default.
- W3153476287 crossrefType "journal-article" @default.
- W3153476287 hasAuthorship W3153476287A5012737433 @default.
- W3153476287 hasAuthorship W3153476287A5024562487 @default.
- W3153476287 hasAuthorship W3153476287A5030458072 @default.
- W3153476287 hasAuthorship W3153476287A5036305472 @default.
- W3153476287 hasAuthorship W3153476287A5047989462 @default.
- W3153476287 hasAuthorship W3153476287A5052408716 @default.
- W3153476287 hasAuthorship W3153476287A5072970862 @default.
- W3153476287 hasBestOaLocation W31534762871 @default.
- W3153476287 hasConcept C104317684 @default.
- W3153476287 hasConcept C126322002 @default.
- W3153476287 hasConcept C142724271 @default.
- W3153476287 hasConcept C187212893 @default.
- W3153476287 hasConcept C2778621155 @default.
- W3153476287 hasConcept C2779134260 @default.
- W3153476287 hasConcept C2779546488 @default.
- W3153476287 hasConcept C2909225500 @default.
- W3153476287 hasConcept C36823959 @default.
- W3153476287 hasConcept C54355233 @default.
- W3153476287 hasConcept C71924100 @default.
- W3153476287 hasConcept C86803240 @default.
- W3153476287 hasConceptScore W3153476287C104317684 @default.
- W3153476287 hasConceptScore W3153476287C126322002 @default.
- W3153476287 hasConceptScore W3153476287C142724271 @default.
- W3153476287 hasConceptScore W3153476287C187212893 @default.
- W3153476287 hasConceptScore W3153476287C2778621155 @default.
- W3153476287 hasConceptScore W3153476287C2779134260 @default.
- W3153476287 hasConceptScore W3153476287C2779546488 @default.
- W3153476287 hasConceptScore W3153476287C2909225500 @default.
- W3153476287 hasConceptScore W3153476287C36823959 @default.
- W3153476287 hasConceptScore W3153476287C54355233 @default.
- W3153476287 hasConceptScore W3153476287C71924100 @default.
- W3153476287 hasConceptScore W3153476287C86803240 @default.
- W3153476287 hasIssue "4" @default.
- W3153476287 hasLocation W31534762871 @default.
- W3153476287 hasLocation W31534762872 @default.
- W3153476287 hasOpenAccess W3153476287 @default.
- W3153476287 hasPrimaryLocation W31534762871 @default.
- W3153476287 hasRelatedWork W2064589596 @default.
- W3153476287 hasRelatedWork W2620898682 @default.
- W3153476287 hasRelatedWork W2727409039 @default.
- W3153476287 hasRelatedWork W2762402813 @default.
- W3153476287 hasRelatedWork W3087056537 @default.
- W3153476287 hasRelatedWork W4205801094 @default.
- W3153476287 hasRelatedWork W4220874618 @default.
- W3153476287 hasRelatedWork W4249977841 @default.
- W3153476287 hasRelatedWork W4363679025 @default.
- W3153476287 hasRelatedWork W4377246582 @default.
- W3153476287 hasVolume "10" @default.
- W3153476287 isParatext "false" @default.
- W3153476287 isRetracted "false" @default.
- W3153476287 magId "3153476287" @default.
- W3153476287 workType "article" @default.