Functional and genetic characterization of clinical malignant hyperthermia crises: A multi-centre study

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Klingler, Werner ^a,g   Heiderich, Sebastian ^a,b   Girard, Thierry ^c   Gravino, Elvira ^d   Heffron, James J A ^e   Johannsen, Stephan ^f   Jurkat Rott, Karin ^a,g   Rüffert, Henrik ^h   Schuster, Frank ^f   Snoeck, Marc ⁱ   Sorrentino, Vincenzo ^j   Tegazzin, Vincenzo ^k   Lehmann Horn, Frank ^a,g  

^a UNIVERSITY OF ULM   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY OF BASEL   (Switzerland)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e UNIVERSITY COLLEGE CORK   (Ireland)

^f UNIVERSITY OF WÜRZBURG   (Germany)

^g UNIVERSITY HOSPITAL ULM   (Germany)

^h UNIVERSITY OF LEIPZIG   (Germany)

ⁱ RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^j UNIVERSITY OF SIENA   (Italy)

^k UNIVERSITY OF PADOVA   (Italy)

more..

Author keywords

In vitro contracture test; Malignant hyperthermia; RyR1 mutations; Succinylcholine; Suxamethonium; Volatile anesthetics

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; CHOLINERGIC RECEPTOR; HALOTHANE; ISOFLURANE; MYOGLOBIN; RYANODINE RECEPTOR 1; SEVOFLURANE; SUXAMETHONIUM;

AGE DISTRIBUTION; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CALCIUM TRANSPORT; CLINICAL GRADING SCALE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC TEST; FEMALE; GENE MUTATION; GENETIC SCREENING; HEREDITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO CONTRACTURE TEST; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MALIGNANT HYPERTHERMIA; MULTICENTER STUDY (TOPIC); MUSCLE CONTRACTURE; NONHUMAN; POLYMERASE CHAIN REACTION; RAT; SARCOPLASMIC RETICULUM; SCORING SYSTEM; SEX DIFFERENCE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MALIGNANT HYPERTHERMIA; MIDDLE AGED; MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SUCCINYLCHOLINE; YOUNG ADULT;

EID: 84892384772     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-8     Document Type: Article

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