Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS [PDF]
, 2014 Background - Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints.
Chan, Mercedes +7 more
core +2 more sources
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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Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]
, 2020 Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam +13 more
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Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs) [PDF]
, 2015 Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair (EPIOC) users with rare diseases (RD) impacting on EPIOC provision and seating. Method: Retrospective review by a consultant in rehabilitation medicine of electronic
Andrew O. Frank +18 more
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Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]
, 2017 Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María +5 more
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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.
core
Dental Considerations for the Treatment of Patients with Morquio Syndrome. [PDF]
Int J Clin Pediatr Dent, 2022 Vinod A, Raj SN, Anand A, Shirly AD.
europepmc +1 more source
Anesthetic Challenges in a Patient of Morquio Syndrome Associated with Acromegaly. [PDF]
Ann Neurosci, 2022 Singh N +4 more
europepmc +1 more source
A New Familial Chondrodystrophy Simulating Parastremmatic Dwarfism [PDF]
, 1977 Recent developments in tissue culture and enzyme analysis have made it possible to classify more precisely some of the skeletal dysplasias and to understand their pathophysiology; thus almost all seven clinical types of mucopolysaccharidoses are due to ...
Golden, Wendy L. +2 more
core +1 more source
Best abstracts from the APAGBI Annual Scientific Meeting 2024
Pediatric Anesthesia, Volume 35, Issue 2, Page 185-191, February 2025.
wiley +1 more source