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Intellectual and neurological functioning in Morquio syndrome (MPS IVa).
Davison JE, Kearney S, Horton J, Foster K, Peet AC, Hendriksz CJ. Davison JE, et al. J Inherit Metab Dis. 2013 Mar;36(2):323-8. doi: 10.1007/s10545-011-9430-5. Epub 2012 Jan 10. J Inherit Metab Dis. 2013. PMID: 22231379
Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by GALNS gene at 16q24.3). Unlike other MPS disorders involving excessive hep …
Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in …
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.
Hughes D, Giugliani R, Guffon N, Jones SA, Mengel KE, Parini R, Matousek R, Hawley SM, Quartel A. Hughes D, et al. Orphanet J Rare Dis. 2017 May 23;12(1):98. doi: 10.1186/s13023-017-0634-0. Orphanet J Rare Dis. 2017. PMID: 28535791 Free PMC article. Clinical Trial.
Pulmonary function measures remained unchanged in both MOR-005 and MorCAP adults. All MPS HAQ domain scores improved in MOR-005 adults, whereas MorCAP adults had unchanged caregiver assistance and mobility outcomes and worsened self-care outcomes. ...
Pulmonary function measures remained unchanged in both MOR-005 and MorCAP adults. All MPS HAQ domain scores improved in MOR-005 adult …
Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study.
de Almeida-Barros RQ, de Medeiros PFV, de Almeida Azevedo MQ, de Oliveira Lira Ortega A, Yamamoto ATA, Dornelas SKL, Bento PM. de Almeida-Barros RQ, et al. Clin Oral Investig. 2018 Jan;22(1):201-208. doi: 10.1007/s00784-017-2100-8. Epub 2017 Mar 19. Clin Oral Investig. 2018. PMID: 28315965

Regarding the temporomandibular joint, 88.2% of the patients showed flattening of the mandibular condyle, 52.9% showed condylar hypoplasia, and all of them showed decreased mobility. Enamel hypoplasia was observed only in patients with MPS IVA (p < 0.05). On the other h

…
Regarding the temporomandibular joint, 88.2% of the patients showed flattening of the mandibular condyle, 52.9% showed condylar hypoplasia, …
A molecular and histological characterization of cartilage from patients with Morquio syndrome.
De Franceschi L, Roseti L, Desando G, Facchini A, Grigolo B. De Franceschi L, et al. Osteoarthritis Cartilage. 2007 Nov;15(11):1311-7. doi: 10.1016/j.joca.2007.04.008. Epub 2007 Jun 4. Osteoarthritis Cartilage. 2007. PMID: 17548214 Free article.
METHOD: Articular cartilage samples were obtained from the femoral condyle of two siblings with Morquio syndrome during surgery performed to treat valgus knee. As controls, four biopsy samples of healthy cartilage were obtained from four different male multiorgan do …
METHOD: Articular cartilage samples were obtained from the femoral condyle of two siblings with Morquio syndrome during surger …
Anesthetic care and perioperative complications of children with Morquio syndrome.
Theroux MC, Nerker T, Ditro C, Mackenzie WG. Theroux MC, et al. Paediatr Anaesth. 2012 Sep;22(9):901-7. doi: 10.1111/j.1460-9592.2012.03904.x. Epub 2012 Jun 27. Paediatr Anaesth. 2012. PMID: 22738181
OBJECTIVES: Our objective was to make recommendations based on our experience and findings from this study regarding the anesthetic care of children with Morquio syndrome (MS). We emphasize information not readily available in the Anesthesiology literature. ...In ad …
OBJECTIVES: Our objective was to make recommendations based on our experience and findings from this study regarding the anesthetic care of …
Non-invasive pulmonary function test on Morquio patients.
Kubaski F, Tomatsu S, Patel P, Shimada T, Xie L, Yasuda E, Mason R, Mackenzie WG, Theroux M, Bober MB, Oldham HM, Orii T, Shaffer TH. Kubaski F, et al. Mol Genet Metab. 2015 Aug;115(4):186-92. doi: 10.1016/j.ymgme.2015.06.007. Epub 2015 Jun 23. Mol Genet Metab. 2015. PMID: 26116954 Free PMC article.
In clinical practice, respiratory function tests are difficult to perform in Morquio syndrome patients due to their characteristic skeletal dysplasia, small body size and lack of cooperation of young patients, where in some cases, conventional spirometry for pulmona …
In clinical practice, respiratory function tests are difficult to perform in Morquio syndrome patients due to their characteri …
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L, Przybilla MJ, Whitley CB. Ou L, et al. Clin Genet. 2018 May;93(5):1008-1014. doi: 10.1111/cge.13226. Epub 2018 Mar 5. Clin Genet. 2018. PMID: 29396849 Free PMC article.
Genotype-phenotype correlation is essential for timely and proper treatment allocation. Recently, by integrating prediction outcomes of 7 bioinformatics tools, we developed a SAAMP algorithm to predict the impact of individual amino-acid substitution. ...Based on th …
Genotype-phenotype correlation is essential for timely and proper treatment allocation. Recently, by integrating prediction outcomes …
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL. Chien YH, et al. Orphanet J Rare Dis. 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. Orphanet J Rare Dis. 2020. PMID: 32014045 Free PMC article.
Here we report the first 70,000 newborns screened for Mucopolysaccharidosis (MPS) type 4A (Morquio syndrome) and other LSDs by an 8-plex assay including the original 4-plex LSD screening tandem mass spectrometry (MS/MS) assay for Pompe disease, Fabry disease, Gauche …
Here we report the first 70,000 newborns screened for Mucopolysaccharidosis (MPS) type 4A (Morquio syndrome) and other LSDs by …
The lower extremity in Morquio syndrome.
Dhawale AA, Thacker MM, Belthur MV, Rogers K, Bober MB, Mackenzie WG. Dhawale AA, et al. J Pediatr Orthop. 2012 Jul-Aug;32(5):534-40. doi: 10.1097/BPO.0b013e318259fe57. J Pediatr Orthop. 2012. PMID: 22706472
BACKGROUND: The modalities and results of surgical intervention in the lower extremity in children with Morquio syndrome type A [mucopolysaccharidosis-IV (MPS-IVA)] have not been well described. ...Progressive hip subluxation, genu valgum, and ankle valgus were o …
BACKGROUND: The modalities and results of surgical intervention in the lower extremity in children with Morquio syndrome type …
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.
Pachajoa H, Acosta MA, Alméciga-Díaz CJ, Ariza Y, Diaz-Ordoñez L, Caicedo-Herrera G, Cuartas D, Nastasi-Catanese JA, Ramírez-Montaño D, Silva YK, Moreno L, Satizabal J, Garcia N, Montoya J, Prada C, Porras G, Velasco H, Candelo E. Pachajoa H, et al. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):388-395. doi: 10.1002/ajmg.c.31936. Epub 2021 Sep 20. Am J Med Genet C Semin Med Genet. 2021. PMID: 34542925
The mutant proteins were generated by homology from the wild-type GALNS 4FDJ template obtained from the PDB database, and visualization was performed using Swiss-PDBViewer and UCSF Chimera. The predictive analysis was run using different bioinformatic tools, and the delete …
The mutant proteins were generated by homology from the wild-type GALNS 4FDJ template obtained from the PDB database, and visualization was …
31 results