Results 41 to 50 of about 335,224 (186)

Hearing loss in patients with Morquio A syndrome: A scoping review. [PDF]

Medicine (Baltimore)
Background: Hearing impairment is a prevalent clinical feature in Morquio syndrome (mucopolysaccharidosis IVA or MPS IVA) patients, often presenting in diverse forms: conductive, sensorineural, or a combination known as mixed hearing loss. The mixed form
Diaz-Ordoñez L, Duque-Cordoba PA, Silva-Cuero K, Gutierrez-Medina JD, Saldarriaga W, Murgašová L, Magner M, Candelo E, Pachajoa H.   +8 more
europepmc   +2 more sources

Novel approach for tracheal resection in Morquio a syndrome with end-stage critical airway obstruction: a UK case series. [PDF]

Orphanet J Rare Dis
Background Mucopolysaccharidosis (MPS) type IVA is a rare lysosomal storage disorder caused by aberrations of the N-acetyl-galactosamine-6-sulfatase (GALNS) enzyme. MPS IVA is associated with a wide gamut of respiratory and airway disorders that manifest
Kenth J, Maughan E, Butler CR, Gabrie J, Rouhani M, Silver B, Ogunbiyi OK, Wilkinson S, Nandi R, Walker R, Muthialu N, Jones S, Hewitt R, Bruce IA.   +13 more
europepmc   +2 more sources

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome). [PDF]

Mol Genet Metab Rep
Sung J, Kim I, Im M, Ahn YJ, Kim SM, Jang JH, Park HD, Jeon TY, Ko KR, Park SJ, Lee JH, Kim EY, Cheon CK, Kang E, Moon JE, Sohn YB, Lin HY, Chuang CK, Lin SP, Cho SY.   +19 more
europepmc   +2 more sources

Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report. [PDF]

J Med Case Rep, 2021
A 20-month-old Asian boy with normal growth presented with genu valgum, kyphosis, and pectus carinatum, with no neurological symptoms. No other symptoms suggestive of mucopolysaccharidoses, for example joint contracture and peculiar facies, were present.
Yamauchi K, Hirano D, Wada M, Ida H.
europepmc   +2 more sources

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A

Molecular Genetics and Metabolism Reports, 2022
Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and ...
Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A. Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard, Raymond J. Louie   +10 more
doaj   +1 more source

Morquio Syndrome: A Case Report. [PDF]

Cureus, 2018
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary complications. The cost of diagnosing and treating this condition is high, and treatment is not easily available everywhere. We present a case of Morquio
Ramphul, Kamleshun, Mejias, Stephanie G, Ramphul-Sicharam, Yogeshwaree   +2 more
openaire   +3 more sources

Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome. [PDF]

J Clin Invest, 2020
Immune response to therapeutic enzymes poses a detriment to patient safety and treatment outcome. Enzyme replacement therapy (ERT) is a standard therapeutic option for some types of Mucopolysaccharidoses including Morquio A syndrome caused by GALNS ...
Sosa AC, Kariuki B, Gan Q, Knutsen AP, Bellone CJ, Guzmán MA, Barrera LA, Tomatsu S, Chauhan AK, Armbrecht E, Montaño AM.   +10 more
europepmc   +2 more sources

Current therapies for Morquio A syndrome and their clinical outcomes. [PDF]

Expert Opin Orphan Drugs, 2016
Sawamoto K, Suzuki Y, Mackenzie WG, Theroux MC, Pizarro C, Yabe H, Orii KE, Mason RW, Orii T, Tomatsu S.   +9 more
europepmc   +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

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