FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2066613785> ?p ?o ?g. }

• W2066613785 endingPage "639" @default.
• W2066613785 startingPage "632" @default.
• W2066613785 abstract "Muscle biopsy is a mainstay diagnostic tool for investigating neuromuscular disorders in children. We report the yield of pediatric muscle biopsy in a population of 415 children by a retrospective study of 419 biopsies performed between 1/01/2000 and 31/12/2009 in a neuropediatric department, including mitochondrial respiratory chain analysis for 87 children. Two hundred and fifty-five biopsies were from boys (61%) 164 from girls (39%). Their mean age at biopsy was 6.5years; 155 (37%) biopsies were obtained before the child was 5years old. Final histopathological diagnoses were: congenital myopathy (n=193, including 15 structural congenital myopathies); progressive muscular dystrophy (n=75 [18%] including 57 dystrophinopathies); congenital muscular dystrophy (n=17, including six primary merosinopathies); dermatomyositis (n=11); spinal muscular atrophy (n=9, including six atypical spinal muscular atrophies); metabolic myopathy (n=32, including 19 mitochondrial myopathies); encephalomyopathy (n=53 [13%], including 27 with a mitochondrial respiratory chain defect). Pathological diagnosis remained undetermined in 16 cases. In 184 patients (44%), the muscle biopsy revealed specific histopathological anomalies (dystrophic process; specific ultrastructural abnormalities; perifascicular atrophy; neurogenic atrophy; metabolic anomalies) enabling a precise etiological diagnosis. For 85% of progressive muscular dystrophies, the biopsy resulted in a genetic diagnosis after identification of the protein defect. In 15% of the congenital myopathies, histopathological anomalies focused attention on one or several genes. Concerning dystrophinopathies, quantification of dystrophin deficiency on the biopsy specimen contributed to the definition of the clinical phenotype: Duchenne, or Becker. In children with a myopathy, muscle biopsy is often indispensable to establish the etiological diagnosis. Based on the results from this series, muscle biopsy can provide a precise orientation in 45% of patients, leading to a genetic hypothesis." @default.
• W2066613785 created "2016-06-24" @default.
• W2066613785 creator A5031447300 @default.
• W2066613785 creator A5032190909 @default.
• W2066613785 creator A5035129860 @default.
• W2066613785 creator A5041809436 @default.
• W2066613785 creator A5053602090 @default.
• W2066613785 creator A5055605623 @default.
• W2066613785 creator A5070491833 @default.
• W2066613785 date "2013-08-01" @default.
• W2066613785 modified "2023-09-26" @default.
• W2066613785 title "Intérêt de la biopsie musculaire chez l’enfant en 2012" @default.
• W2066613785 cites W1974768963 @default.
• W2066613785 cites W1976082628 @default.
• W2066613785 cites W1982308558 @default.
• W2066613785 cites W1990041499 @default.
• W2066613785 cites W1995817402 @default.
• W2066613785 cites W1996110128 @default.
• W2066613785 cites W2006177205 @default.
• W2066613785 cites W2012962943 @default.
• W2066613785 cites W2072832813 @default.
• W2066613785 cites W2078075497 @default.
• W2066613785 cites W2081565616 @default.
• W2066613785 cites W2084016324 @default.
• W2066613785 cites W2089579327 @default.
• W2066613785 cites W2119595875 @default.
• W2066613785 cites W2138248778 @default.
• W2066613785 cites W2141722568 @default.
• W2066613785 cites W2155300989 @default.
• W2066613785 cites W2162121601 @default.
• W2066613785 doi "https://doi.org/10.1016/j.neurol.2012.11.011" @default.
• W2066613785 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23993361" @default.
• W2066613785 hasPublicationYear "2013" @default.
• W2066613785 type Work @default.
• W2066613785 sameAs 2066613785 @default.
• W2066613785 citedByCount "5" @default.
• W2066613785 countsByYear W20666137852014 @default.
• W2066613785 countsByYear W20666137852015 @default.
• W2066613785 countsByYear W20666137852019 @default.
• W2066613785 countsByYear W20666137852020 @default.
• W2066613785 countsByYear W20666137852022 @default.
• W2066613785 crossrefType "journal-article" @default.
• W2066613785 hasAuthorship W2066613785A5031447300 @default.
• W2066613785 hasAuthorship W2066613785A5032190909 @default.
• W2066613785 hasAuthorship W2066613785A5035129860 @default.
• W2066613785 hasAuthorship W2066613785A5041809436 @default.
• W2066613785 hasAuthorship W2066613785A5053602090 @default.
• W2066613785 hasAuthorship W2066613785A5055605623 @default.
• W2066613785 hasAuthorship W2066613785A5070491833 @default.
• W2066613785 hasConcept C104317684 @default.
• W2066613785 hasConcept C126322002 @default.
• W2066613785 hasConcept C137627325 @default.
• W2066613785 hasConcept C142724271 @default.
• W2066613785 hasConcept C24586158 @default.
• W2066613785 hasConcept C2775833069 @default.
• W2066613785 hasConcept C2775934546 @default.
• W2066613785 hasConcept C2777300911 @default.
• W2066613785 hasConcept C2778558090 @default.
• W2066613785 hasConcept C2779030066 @default.
• W2066613785 hasConcept C2779134260 @default.
• W2066613785 hasConcept C2779438767 @default.
• W2066613785 hasConcept C2779999465 @default.
• W2066613785 hasConcept C2780394045 @default.
• W2066613785 hasConcept C2781172350 @default.
• W2066613785 hasConcept C2908647359 @default.
• W2066613785 hasConcept C55493867 @default.
• W2066613785 hasConcept C71924100 @default.
• W2066613785 hasConcept C86803240 @default.
• W2066613785 hasConcept C99454951 @default.
• W2066613785 hasConceptScore W2066613785C104317684 @default.
• W2066613785 hasConceptScore W2066613785C126322002 @default.
• W2066613785 hasConceptScore W2066613785C137627325 @default.
• W2066613785 hasConceptScore W2066613785C142724271 @default.
• W2066613785 hasConceptScore W2066613785C24586158 @default.
• W2066613785 hasConceptScore W2066613785C2775833069 @default.
• W2066613785 hasConceptScore W2066613785C2775934546 @default.
• W2066613785 hasConceptScore W2066613785C2777300911 @default.
• W2066613785 hasConceptScore W2066613785C2778558090 @default.
• W2066613785 hasConceptScore W2066613785C2779030066 @default.
• W2066613785 hasConceptScore W2066613785C2779134260 @default.
• W2066613785 hasConceptScore W2066613785C2779438767 @default.
• W2066613785 hasConceptScore W2066613785C2779999465 @default.
• W2066613785 hasConceptScore W2066613785C2780394045 @default.
• W2066613785 hasConceptScore W2066613785C2781172350 @default.
• W2066613785 hasConceptScore W2066613785C2908647359 @default.
• W2066613785 hasConceptScore W2066613785C55493867 @default.
• W2066613785 hasConceptScore W2066613785C71924100 @default.
• W2066613785 hasConceptScore W2066613785C86803240 @default.
• W2066613785 hasConceptScore W2066613785C99454951 @default.
• W2066613785 hasIssue "8-9" @default.
• W2066613785 hasLocation W20666137851 @default.
• W2066613785 hasLocation W20666137852 @default.
• W2066613785 hasOpenAccess W2066613785 @default.
• W2066613785 hasPrimaryLocation W20666137851 @default.
• W2066613785 hasRelatedWork W1963631045 @default.
• W2066613785 hasRelatedWork W1965833632 @default.
• W2066613785 hasRelatedWork W1984357989 @default.
• W2066613785 hasRelatedWork W1991090751 @default.

• next