Results 31 to 40 of about 335,217 (205)

A description of skeletal manifestation in adult case of morquio syndrome: radiographic and MRI appearance. [PDF]

Case Rep Med, 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.
Di Cesare A, Di Cagno A, Moffa S, Teresa P, Luca I, Giombini A.   +5 more
europepmc   +2 more sources

Morquio syndrome (MPV IV)-A case report

Indian Journal of Ophthalmology, 1991
A child, of normal intelligence, belonging to a nonconsanguineous marriage was diagnosed as MPS type IV the so called Morquio syndrome. Despite mild corneal cloudiness no other ophthalmological abnormalities were observed.
Rekhi Gulbir
doaj   +2 more sources

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.

JMIR Res Protoc
BackgroundMucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase ...
Diaz-Ordoñez L, Duque-Cordoba PA, Nieva-Posso DA, Saldarriaga W, Gutierrez-Medina JD, Pachajoa H.   +5 more
europepmc   +2 more sources

Overcoming the barriers to diagnosis of Morquio A syndrome [PDF]

Orphanet Journal of Rare Diseases, 2014
Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a
Adeline Tan, Akemi Tanaka, Albert D Yang, Anita Inwood, Antony Fu, Dong Kyu Jin, Hasri Samion, Hsiang-Yu Lin, Jim McGill, Kaustuv Bhattacharya, Michael Fietz, Motomichi Kosuga, Nancy J Mendelsohn, Ok-Hwa Kim, Shanti Balasubramaniam, Shuan-Pei Lin, Teck-Hock Toh, Torayuki Okuyama, Verasak Thamkunanon, Yew Sing Choy, Young Hee Kwun   +20 more
core   +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

Therapies of mucopolysaccharidosis IVA (Morquio A syndrome) [PDF]

Expert Opinion on Orphan Drugs, 2013
Morquio A syndrome (mucopolysaccharidosis type IVA, MPS IVA) is one of the lysosomal storage diseases and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme leads to accumulation of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S).
Shunji, Tomatsu, Carlos J, Alméciga-Díaz, Hector, Barbosa, Adriana M, Montaño, Luis A, Barrera, Tsutomu, Shimada, Eriko, Yasuda, William G, Mackenzie, Robert W, Mason, Yasuyuki, Suzuki, Kenji E, Orii, Tadao, Orii   +11 more
openaire   +2 more sources

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +2 more sources

Activity of daily living for Morquio A syndrome [PDF]

Molecular Genetics and Metabolism, 2016
The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index.
Eriko, Yasuda, Yasuyuki, Suzuki, Tsutomu, Shimada, Kazuki, Sawamoto, William G, Mackenzie, Mary C, Theroux, Christian, Pizarro, Li, Xie, Freeman, Miller, Tariq, Rahman, Heidi H, Kecskemethy, Kyoko, Nagao, Thierry, Morlet, Thomas H, Shaffer, Yasutsugu, Chinen, Hiromasa, Yabe, Akemi, Tanaka, Haruo, Shintaku, Kenji E, Orii, Koji O, Orii, Robert W, Mason, Adriana M, Montaño, Toshiyuki, Fukao, Tadao, Orii, Shunji, Tomatsu   +24 more
openaire   +2 more sources

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

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Diagnostics, 2020
Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body
Agnieszka Różdżyńska-Świątkowska, Krzysztof Szklanny, Jolanta Marucha, Anna Tylki-Szymańska   +3 more
doaj   +1 more source