FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2167445597> ?p ?o ?g. }

• W2167445597 abstract "The challenge of defining a child’s best interestsSpinal muscular atrophy–type I or Werdnig-Hoffman disease is an autosomal recessive disorder of childhood that causes profound weakness and death from respiratory failure, typically by the age of 2 years in the absence of mechanical ventilation.1,2 Management of this condition is highly variable—while some patients and their families are not offered any form of respiratory support, patients in other settings are routinely treated with the full spectrum of respiratory assistance and supportive care.3 Unless this striking variability in practice can be justified on the basis of factors related to individual differences between patients, it must represent either a failure to appreciate key factors about the disease or the influence of professional values and norms on the decision making process.The spinal muscular atrophies (SMA) are a spectrum of inherited neuromuscular diseases caused by the degeneration of anterior horn cells. The SMAs are categorised into stages based on age of onset, with type I defined by evidence of weakness before 6 months of age.4 While patients with this disorder have normal intellect, they generally have rapid neuromuscular deterioration and suffer a respiratory death in the first two years of life.1,2 Those patients with other forms of SMA have later onset of symptoms, experience a slower progression of muscle weakness, and respiratory symptoms may not arise until the teenage or adult years. The physician must be careful, however, when using this classification scheme to prognosticate for a given child. Several studies have cited many examples of children with onset of symptoms before age 6 months who have not developed respiratory failure for years.2,4–6 While 93% of all SMA patients are lacking a “survival motor neurone gene”,7–9 the genetic basis for phenotypic variability remains …" @default.
• W2167445597 created "2016-06-24" @default.
• W2167445597 creator A5040652239 @default.
• W2167445597 creator A5061728079 @default.
• W2167445597 date "2003-10-01" @default.
• W2167445597 modified "2023-09-27" @default.
• W2167445597 title "Spinal muscular atrophy-type I" @default.
• W2167445597 cites W158455040 @default.
• W2167445597 cites W1589428414 @default.
• W2167445597 cites W1968852224 @default.
• W2167445597 cites W1971149025 @default.
• W2167445597 cites W1972855704 @default.
• W2167445597 cites W1975975718 @default.
• W2167445597 cites W1980477780 @default.
• W2167445597 cites W1981388716 @default.
• W2167445597 cites W1991640972 @default.
• W2167445597 cites W1992819600 @default.
• W2167445597 cites W2004640171 @default.
• W2167445597 cites W2005486481 @default.
• W2167445597 cites W2005646517 @default.
• W2167445597 cites W2007954199 @default.
• W2167445597 cites W2020356607 @default.
• W2167445597 cites W2022753095 @default.
• W2167445597 cites W2022972923 @default.
• W2167445597 cites W2023929681 @default.
• W2167445597 cites W2026841516 @default.
• W2167445597 cites W2029827355 @default.
• W2167445597 cites W2035170527 @default.
• W2167445597 cites W2040490682 @default.
• W2167445597 cites W2045361936 @default.
• W2167445597 cites W2045792974 @default.
• W2167445597 cites W2065902705 @default.
• W2167445597 cites W2074043907 @default.
• W2167445597 cites W2076086832 @default.
• W2167445597 cites W2076585467 @default.
• W2167445597 cites W2078192740 @default.
• W2167445597 cites W2081735313 @default.
• W2167445597 cites W2133561625 @default.
• W2167445597 cites W2140860447 @default.
• W2167445597 cites W2143313575 @default.
• W2167445597 cites W2144034294 @default.
• W2167445597 cites W2341421474 @default.
• W2167445597 cites W2396981429 @default.
• W2167445597 cites W2401174271 @default.
• W2167445597 doi "https://doi.org/10.1136/adc.88.10.848" @default.
• W2167445597 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1719334" @default.
• W2167445597 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14500298" @default.
• W2167445597 hasPublicationYear "2003" @default.
• W2167445597 type Work @default.
• W2167445597 sameAs 2167445597 @default.
• W2167445597 citedByCount "37" @default.
• W2167445597 countsByYear W21674455972012 @default.
• W2167445597 countsByYear W21674455972013 @default.
• W2167445597 countsByYear W21674455972014 @default.
• W2167445597 countsByYear W21674455972015 @default.
• W2167445597 countsByYear W21674455972016 @default.
• W2167445597 countsByYear W21674455972017 @default.
• W2167445597 countsByYear W21674455972018 @default.
• W2167445597 crossrefType "journal-article" @default.
• W2167445597 hasAuthorship W2167445597A5040652239 @default.
• W2167445597 hasAuthorship W2167445597A5061728079 @default.
• W2167445597 hasBestOaLocation W21674455971 @default.
• W2167445597 hasConcept C114614502 @default.
• W2167445597 hasConcept C126322002 @default.
• W2167445597 hasConcept C141071460 @default.
• W2167445597 hasConcept C161921814 @default.
• W2167445597 hasConcept C1862650 @default.
• W2167445597 hasConcept C187212893 @default.
• W2167445597 hasConcept C2776356578 @default.
• W2167445597 hasConcept C2776418732 @default.
• W2167445597 hasConcept C2776888751 @default.
• W2167445597 hasConcept C2778558090 @default.
• W2167445597 hasConcept C2779134260 @default.
• W2167445597 hasConcept C2780247198 @default.
• W2167445597 hasConcept C2781172350 @default.
• W2167445597 hasConcept C33923547 @default.
• W2167445597 hasConcept C71924100 @default.
• W2167445597 hasConcept C99508421 @default.
• W2167445597 hasConceptScore W2167445597C114614502 @default.
• W2167445597 hasConceptScore W2167445597C126322002 @default.
• W2167445597 hasConceptScore W2167445597C141071460 @default.
• W2167445597 hasConceptScore W2167445597C161921814 @default.
• W2167445597 hasConceptScore W2167445597C1862650 @default.
• W2167445597 hasConceptScore W2167445597C187212893 @default.
• W2167445597 hasConceptScore W2167445597C2776356578 @default.
• W2167445597 hasConceptScore W2167445597C2776418732 @default.
• W2167445597 hasConceptScore W2167445597C2776888751 @default.
• W2167445597 hasConceptScore W2167445597C2778558090 @default.
• W2167445597 hasConceptScore W2167445597C2779134260 @default.
• W2167445597 hasConceptScore W2167445597C2780247198 @default.
• W2167445597 hasConceptScore W2167445597C2781172350 @default.
• W2167445597 hasConceptScore W2167445597C33923547 @default.
• W2167445597 hasConceptScore W2167445597C71924100 @default.
• W2167445597 hasConceptScore W2167445597C99508421 @default.
• W2167445597 hasLocation W21674455971 @default.
• W2167445597 hasLocation W21674455972 @default.
• W2167445597 hasLocation W21674455973 @default.
• W2167445597 hasLocation W21674455974 @default.
• W2167445597 hasOpenAccess W2167445597 @default.
• W2167445597 hasPrimaryLocation W21674455971 @default.

• next