Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.
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Malignant hyperthermiaInhibition of sarcoplasmic Ca2+-ATPase increases caffeine- and halothane-induced contractures in muscle bundles of malignant hyperthermia susceptible and healthy individuals.PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamicsMalignant hyperthermia: a reviewPharmGKB summary: very important pharmacogene information for RYR1RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.Screening test for malignant hyperthermia in patients with persistent hyperCKemia: a pilot study.Management of malignant hyperthermia: diagnosis and treatment.Malignant hyperthermia: a pharmacogenetic disorder.Evaluation of suspected malignant hyperthermia events during anesthesia.Malignant hyperthermia resolving with discontinuation of sevoflurane alone.Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.Pharmacogenetics and anesthesiologists.Pediatric anesthesia - potential risks and their assessment: part I.A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathyRyanodine receptor-mediated arrhythmias and sudden cardiac death.Genetics in clinical trials.Core myopathies and malignant hyperthermia susceptibility: a review.Malignant hyperthermia, a Scandinavian update.A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisisFunctional analysis of RYR1 variants linked to malignant hyperthermia.A case report of suspected malignant hyperthermia where patient survived the episode.Clinical utility gene card for: malignant hyperthermia.Use of the caffeine-halothane contracture test for the diagnosis of malignant hyperthermia in Brazil.Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation.Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease.Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia.Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?Statin-induced muscle toxicity and susceptibility to malignant hyperthermia and other muscle diseases: a population-based case-control study including 1st and 2nd degree relatives.Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility.Male preponderance of patients testing positive for malignant hyperthermia susceptibility.[Telephone enquiries on the topic of malignant hyperthermia: Evaluation of the content and subsequent diagnostic results at the MH Center Leipzig].[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia familiesIdentification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia
P2860
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P2860
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.
@en
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.
@nl
type
label
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.
@en
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.
@nl
prefLabel
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.
@en
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.
@nl
P2093
P356
P1476
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia
@en
P2093
European Malignant Hyperthermia Group
T McCarthy
P304
P356
10.1093/BJA/86.2.283
P407
P577
2001-02-01T00:00:00Z