Results 51 to 60 of about 1,770 (187)

Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome

Diagnostics, 2021
Morquio syndrome is a rare disease caused by a disorder in the storage of mucopolysaccharides that affects multiple organs, including musculoskeletal, respiratory, cardiovascular, and digestive systems. Respiratory failure is one of the leading causes of
Madhavi V. Ratnagiri, Yan Zhu, Tariq Rahman, Mary Theroux, Shunji Tomatsu, Thomas H. Shaffer   +5 more
doaj   +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

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA [PDF]

Korean Journal of Pediatrics, 2012
PurposeMucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin   +7 more
doaj   +1 more source

Clinical Conundrum: Unveiling a Rare Case of Morquio Syndrome with Rheumatic Heart Disease [PDF]

Journal of Clinical and Diagnostic Research
A genetic lysosomal storage condition called Mucopolysaccharidosis (MPS) causes a variety of enzyme deficits that result in the build-up of specific glycosaminoglycans in the tissues. These deposits impact several systems, resulting in chronic morbidity,
Krupa Bhanushali, Keta Vagha, Ashish Varma, Amar Taksande   +3 more
doaj   +1 more source

Morquio Syndrome in Two Siblings: A Case Report

, 2011
Morquio syndrome is a rare inherited autosomal recessive disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues. It is rare cause of dwarfism.
T Malla, S Basnet, PK Tiwari, KS Rao, N KC, KK Malla, A Ghosh   +6 more
core   +1 more source

Anesthetic management in a patient with morquio syndrome

, 2015
Morquio Syndrome is an autosomal recessive lysosomal storage disease. It is one of the subgroup of mucopolysaccharidosis (MPS IV). Anesthesiologist usually deal with patients diagnosed Morquio Syndrome as they require repeated anesthesia administrations ...
Alkan, M., Unal, Y., ALKAN, METİN, Dikmen, B., Ozen, S.B., Dikmen, BAYAZİT, Uysal, Mukerrem, ÜNAL, YUSUF, Ozen, Sevil Baltaci, Uysal, M.   +9 more
core   +1 more source

Proximal realignment surgery for unilateral chronic patella dislocation in Morquio syndrome: a case report

Acta Orthopaedica et Traumatologica Turcica, 2020
Mucopolysaccharidosis IVA (MPS IVA: Morquio A syndrome) is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Patients with MPS IVA appear healthy at birth.
Ali Bulent Baz, Serdar Akalin, Hasan Arik, Ali Ergun   +3 more
doaj   +1 more source

Understanding bias when estimating life expectancy from age at death: a simulation approach applied to Morquio syndrome A

BMC Research Notes, 2022
Objective Life expectancy can be estimated accurately from a cohort of individuals born in the same year and followed from birth to death. However, due to the resource-consuming nature of following a cohort prospectively, life expectancy is often ...
Xue Yin, Jaeil Ahn, Simina M. Boca
doaj   +1 more source

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

Case Reports in Medicine, 2013
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate.
Albina Tummolo, Orazio Gabrielli, Alberto Gaeta, Maristella Masciopinto, Lucia Zampini, Luigi Michele Pavone, Paola Di Natale, Francesco Papadia   +7 more
doaj   +1 more source