Anaesthesia and airway management in mucopolysaccharidosis [PDF]
, 2013 This paper provides a detailed overview and dis-cussion of anaesthesia in patients with mucopolysacchari-dosis (MPS), the evaluation of risk factors in these patients and their anaesthetic management, including emergency airway issues.
A Hirth +67 more
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A Case Report of Cardiac Ascites in Morquio Syndrome Complicated by Pulmonary Hypertension
Annals of Internal Medicine: Clinical CasesMorquio syndrome, or mucopolysaccharidosis type IV (MPS IV), is a rare lysosomal storage disorder characterized by skeletal dysplasia and dysostosis multiplex.
Gauri Patel, Olakanmi Joseph Deleawe
doaj +1 more source
Case Reports in Medicine, 2012 We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase.
Annalisa Di Cesare +5 more
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Safe intubation in Morquio-Brailsford syndrome: A challenge for the anesthesiologist
Journal of Anaesthesiology Clinical Pharmacology, 2013 Morquio-Brailsford syndrome is a type of mucopolysaccharidoses. It is a rare disease with features of short stature, atlantoaxial instability with risk of cord damage, odontoid hypoplasia, pectus carinatum, spine deformities, hepatomegaly, and ...
Souvik Chaudhuri +3 more
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Re-Seeing The Mighty: Critically Examining One Film\u27s Representations of Disability in the English Classroom [PDF]
, 2010 Films portraying characters with disabilities are often shown in the English classroom. Films such as Of Mice and Men, Simon Birch, To Kill a Mockingbird, The Hunchback of Notre Dame, The Glass Menagerie, Moby Dick, Gattaca, and A ...
Arndt, Katrina +2 more
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Current and emerging management options for patients with Morquio A syndrome
Therapeutics and Clinical Risk Management, 2013 Mohamed F Algahim, G Hossein AlmassiDivision of Cardiothoracic Surgery, Medical College of Wisconsin, Milwaukee, WI, USAAbstract: Morquio A syndrome is a lysosomal storage disease associated with mucopolysaccharidosis. It is caused by a deficiency of the
Algahim MF, Almassi GH
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Une mère et ses deux filles jumelles univitellines atteintes de chondrodysplasie [PDF]
, 2017 Till to-day there are very few concordant and discordant twin pairs known with regard to chondrodysplasy. We describe here a family in which as well the mother as also her both twin daughters are affected with this disturbance of development.
Pfändler, U.
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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? [PDF]
, 2012 BACKGROUND: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin,
Clewing, JM +9 more
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Diagnostic contribution of visual electrophysiologic assessment in patients from a university hospital [PDF]
, 2003 PURPOSE: To determine the frequency of diagnostic categories obtained in a clinical vision electrophysiology laboratory at a university hospital. METHODS: Patients who underwent visual electrodiagnostic testing from October 1998 to October 2000 (N=570 ...
Berezovsky, Adriana +3 more
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گزارش مورد: گزارش اداره ی بيهوشی جهت انجام هيستروتومی در يک موردسندرم مورکيو [PDF]
, 2011 سندرم موركيو يك بيماري ارثي اتوزوم مغلوب از گروه موكوپليساكاريدوز هاست كه از نظر باليني با ديسپلازي شديد اسكلتي و با بهرههوشي نرمال مشخص ميشود. ارتشاح كراتان سولفات در نسوج مختلف رخ ميدهد و با پيشرفت بيماري ميتواند باعث درگيري نسج همبند قرنيه و راههاي ...
اسداله, سارا +4 more
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