Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Anesthetic management of a ventilator-dependent parturient with the King-Denborough syndrome

Autor: Holly A. Muir, Peter Deballi, Ashraf S. Habib, S. Millar

Publikováno v: Canadian journal of anaesthesia = Journal canadien d'anesthesie. 50(6)

The King-Denborough syndrome (KDS) is a rare disorder that is associated with myopathy, susceptibility to malignant hyperthermia (MH) as well as congenital skeletal and facial anomalies. We report the anesthetic management of a parturient with KDS.We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4441db56d814074562099d2d3231240
https://pubmed.ncbi.nlm.nih.gov/12826552

King-Denborough Syndrome: report of two Brazilian cases

Autor: L. G. Ferreira, Mary S. Carvalho, Suely Kazue Nagahashi Marie, Aron J. Diament, Milberto Scaff, Umbertina Conti Reed, Maria B. D. Resende

Publikováno v: Arquivos de Neuro-Psiquiatria v.60 n.3B 2002
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Vol 60, Iss 3B, Pp 739-741 (2002)
ResearcherID

We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84cf051ab0b7f0e05e0a566cfacdfa5e
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500011

G.P.1.03 King-Denborough syndrome associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Autor: Francesco Muntoni, Haiyan Zhou, James J. Dowling, Caroline Sewry, Elizabeth Wraige, Heinz Jungbluth, Kimberly Amburgey, Safa Al-Sarraj, S. Lillis, Stephen Abbs, Steven M. Leber

Publikováno v: Neuromuscular Disorders. 19:556-557

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::05beb426cfc27e92a2fee5ab41f98985
https://doi.org/10.1016/j.nmd.2009.06.045

Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome

Autor: Margaret Badenhorst, Hyam Isaacs

Publikováno v: Musclenerve. 15(6)

A 14-year-old boy, an only child, with the phenotypical dysmorphic features of the King-Denborough Syndrome developed a severe hyperthermic episode during anesthesia which responded to the administration of sodium dantrolene. As adequate metabolic st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d09ad1562e9d7e841e11ef0910f4cce
https://pubmed.ncbi.nlm.nih.gov/1508238