Results 41 to 50 of about 2,011 (197)

Morquio syndrome

, 2019
Dane Gunter
  +4 more sources

Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

Molecular Genetics and Metabolism Reports, 2022
Mucopolysaccharidosis IVA or Morquio A syndrome is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency. A diagnosis can be provided by the identification of reduced N-acetylgalactosamine-6-sulfatase activity as well ...
Kathryn DeLong, Annette Feigenbaum, Laura Pollard, Andrew Lay, Timothy Wood   +4 more
doaj   +1 more source

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia

JBMR Plus, Volume 7, Issue 12, December 2023., 2023
We identified differences in cytokine expression in multiple types of pediatric skeletal dysplasia as compared to typically growing children. Four of the 12 analyzed cytokines demonstrated elevated expression above control levels in all of the dysplasia cohorts (IL‐12, IL‐13, IP‐10, RANTES) and 2 demonstrated expression below control levels across all ...
David A. O'Connell, Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Marjorie M. Postell, Paul T. Fawcett, Michael B. Bober   +6 more
wiley   +1 more source

Anaesthetic considerations of adults with Morquio's syndrome - a case report

BMC Anesthesiology, 2010
Background The anaesthetic management of patients with Morquio syndrome is complicated by a number of factors including odontoid hypoplasia, atlantoaxial instability, thoracic kyphosis, and deposition of mucopolysaccharides in the soft tissue of the ...
Donnelly Maria B, Farooq Muhammad, McLaughlin Anne, Foley Kieran   +3 more
doaj   +1 more source

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism

Clinical and Translational Science, Volume 16, Issue 12, Page 2438-2457, December 2023., 2023
Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Yuen Yi Hon, Jie Wang, Henrietta Abodakpi, Anand Balakrishnan, Michael Pacanowski, Sushanta Chakder, Patroula Smpokou, Kathleen Donohue, Yow‐Ming C. Wang   +8 more
wiley   +1 more source

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023
Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley   +1 more source

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 206-219, March 2023., 2023
Abstract Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin‐
Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter   +6 more
wiley   +1 more source

Anaesthetic implications in a patient with Morquio A syndrome

Journal of Neuroanaesthesiology and Critical Care, 2015
In patients with Morquio A syndrome, almost all the systems of body are affected and this has a bearing on their anaesthetic management. Herein, we describe the management of child with Morquio A syndrome with atlanto-axial dislocation who underwent ...
Charu Mahajan, K. N. Adarsha, Bhagya R. Jena, Devendra Gupta, Shashi Srivastava   +4 more
doaj   +1 more source

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Orphanet Journal of Rare Diseases, 2020
Background Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden.
Lina Moisan, David Iannuzzi, Bruno Maranda, Philippe M. Campeau, John J. Mitchell   +4 more
doaj   +1 more source