2024
Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants
Celebiler H, Barak T, K. D, Kaya I, Erbilgin S, Uytun M, Oztop D, Gumus H, Per H, Ceylaner S, Bozkurt I, Kontaridis M, Bilguvar K, Akhun N, Kilincaslan A, Caglayan A, Erson-Omay E, Gunel M, Ercan-Sencicek A. Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants. Molecular Syndromology 2024, 16: 342-353. PMID: 40771184, PMCID: PMC12324730, DOI: 10.1159/000542367.Peer-Reviewed Original ResearchWhole-exome sequencingStandard Sanger sequencingMucopolysaccharidosis type IIIBExome sequencingProgressive neurodegenerative disorderConsanguineous familySanger sequencingNAGLU genePhenotypic characteristicsMagnetic resonance imagingEnzymatic assayNeurodegenerative disordersAffected individualsLoss of activityNeurodegenerative symptomsAutosomal recessive lysosomal disorderCellular mechanismsVariantsLysosomal disorderEnzymeNormal MRI findingsSequenceMPS IIIBMRI findingsType IIIb
2023
Establishing a Consensus Definition of a Knee Fracture-Dislocation (Schenck Knee Dislocation V) Using a Global Modified Delphi Method
Medvecky M, Kahan J, Richter D, McLaughlin W, Moran J, Islam W, Miller M, Wascher D, Treme G, Campos T, Held M, Schenck R. Establishing a Consensus Definition of a Knee Fracture-Dislocation (Schenck Knee Dislocation V) Using a Global Modified Delphi Method. Journal Of Bone And Joint Surgery 2023, 105: 1182-1192. PMID: 37352339, DOI: 10.2106/jbjs.23.00039.Peer-Reviewed Original ResearchConceptsCompression fracturesArticular fracturesResponse rateFracture patternsInferior pole fractureTibial tubercle fracturesMultiligamentous knee injuriesKnee ligament injuriesTibial plateau fracturesWeight-bearing surfaceSpecific fracture patternsTubercle fracturesAvulsion fractureFracture dislocationKnee injuriesLigament injuryBody fracturesComplex injuriesPlateau fracturesSurface involvementType IIIbType IIIAConsensus definitionClinical scenariosDelphi technique
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