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Best matches for morquio disease:

[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy]. Politei J et al. Arch Argent Pediatr. (2015)

International guidelines for the management and treatment of Morquio A syndrome. Hendriksz CJ et al. Am J Med Genet A. (2015)

[Natural history of Morquio A disease]. Baujat G et al. Arch Pediatr. (2014)

Search results

Items: 1 to 20 of 1332

1.

Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy.

Pal AR, Mercer J, Jones SA, Bruce IA, Bigger BW.

PLoS One. 2018 Sep 18;13(9):e0203216. doi: 10.1371/journal.pone.0203216. eCollection 2018.

2.

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.

Bleier M, Yuskiv N, Priest T, Moisa Popurs MA, Stockler-Ipsiroglu S; BC Children's Hospital; University of British Columbia.

Mol Genet Metab Rep. 2018 Jul 20;16:57-63. doi: 10.1016/j.ymgmr.2018.06.006. eCollection 2018 Sep.

3.

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation.

Moreno Giraldo LJ, Escudero Rodríguez ÁM, Sánchez Gómez A, Satizabal Soto JM.

Mol Genet Metab Rep. 2018 Jul 20;16:53-56. doi: 10.1016/j.ymgmr.2018.06.008. eCollection 2018 Sep.

4.

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.

Giugliani R, Giugliani L, de Oliveira Poswar F, Donis KC, Corte AD, Schmidt M, Boado RJ, Nestrasil I, Nguyen C, Chen S, Pardridge WM.

Orphanet J Rare Dis. 2018 Jul 5;13(1):110. doi: 10.1186/s13023-018-0849-8.

5.

Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method.

Andrade MFA, Guimarães ICB, Acosta AX, Leão EKEA, Moreira MIG, Mendes CMC.

J Pediatr (Rio J). 2018 Jun 25. pii: S0021-7557(17)31009-4. doi: 10.1016/j.jped.2018.05.006. [Epub ahead of print]

6.

Mucopolysaccharidoses: overview of neuroimaging manifestations.

Nicolas-Jilwan M, AlSayed M.

Pediatr Radiol. 2018 May 11. doi: 10.1007/s00247-018-4139-3. [Epub ahead of print]

PMID:
29752520
7.

Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.

Blundell J, Frisson S, Chakrapani A, Kearney S, Vijay S, MacDonald A, Gissen P, Hendriksz C, Olson A.

Cogn Neuropsychol. 2018 May - Jun;35(3-4):120-147. doi: 10.1080/02643294.2018.1443913.

PMID:
29741470
8.

Morquio Syndrome: A Case Report.

Ramphul K, Mejias SG, Ramphul-Sicharam Y.

Cureus. 2018 Mar 5;10(3):e2270. doi: 10.7759/cureus.2270.

9.

Neurophysiology of hearing in patients with mucopolysaccharidosis type IV.

Nagao K, Morlet T, Haley E, Padilla J, Nemith J, Mason RW, Tomatsu S.

Mol Genet Metab. 2018 Apr;123(4):472-478. doi: 10.1016/j.ymgme.2018.02.002. Epub 2018 Feb 8.

PMID:
29472067
10.

SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.

Ou L, Przybilla MJ, Whitley CB.

Clin Genet. 2018 May;93(5):1008-1014. doi: 10.1111/cge.13226. Epub 2018 Mar 5.

PMID:
29396849
11.

Natural history of Morquio A patient with tracheal obstruction from birth to death.

Doherty C, Averill LW, Theroux M, Mackenzie WG, Pizarro C, Mason RW, Tomatsu S.

Mol Genet Metab Rep. 2017 Dec 22;14:59-67. doi: 10.1016/j.ymgmr.2017.11.005. eCollection 2018 Mar.

12.

Widespread Vasculopathy in a Patient with Morquio A Syndrome.

Powell AW, Taylor MD, Burrow TA, Hopkin RJ, Prada CE, Jefferies JL.

Tex Heart Inst J. 2017 Dec 19;44(6):420-423. doi: 10.14503/THIJ-16-6121. eCollection 2017 Dec.

13.

Voice alterations in patients with Morquio A syndrome.

Szklanny K, Gubrynowicz R, Tylki-Szymańska A.

J Appl Genet. 2018 Feb;59(1):73-80. doi: 10.1007/s13353-017-0421-6. Epub 2017 Dec 23.

14.

Whole Body and CNS Biodistribution of rhHNS in Cynomolgus Monkeys after Intrathecal Lumbar Administration: Treatment Implications for Patients with MPS IIIA.

Chung JK, Pan L, Palmieri K, Youssef AS, McCauley TG.

Int J Mol Sci. 2017 Dec 1;18(12). pii: E2594. doi: 10.3390/ijms18122594.

15.

Lysosomal storage diseases.

Ferreira CR, Gahl WA.

Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005. Review.

16.

Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia.

Biswas SN, Patra S, Chakraborty PP, Barman H.

BMJ Case Rep. 2017 Oct 20;2017. pii: bcr-2017-221156. doi: 10.1136/bcr-2017-221156.

PMID:
29054894
17.

Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study.

Koehne T, Köhn A, Friedrich RE, Kordes U, Schinke T, Muschol N, Kahl-Nieke B.

Clin Oral Investig. 2018 Apr;22(3):1541-1549. doi: 10.1007/s00784-017-2240-x. Epub 2017 Oct 18.

PMID:
29046964
18.

Elosulfase alfa enzyme replacement therapy attenuates disease progression in a non-ambulatory Japanese patient with Morquio A syndrome (case report).

Hiramatsu M, Nakamura K.

Mol Genet Metab Rep. 2017 Sep 14;13:76-79. doi: 10.1016/j.ymgmr.2017.09.001. eCollection 2017 Dec.

19.

Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.

Shams S, Barazandeh Tehrani M, Civallero G, Minookherad K, Giugliani R, Setoodeh A, Haghi Ashtiani MT.

J Diabetes Metab Disord. 2017 Sep 8;16:37. doi: 10.1186/s40200-017-0319-1. eCollection 2017.

20.

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.

Dornelles AD, Artigalás O, da Silva AA, Ardila DLV, Alegra T, Pereira TV, Vairo FPE, Schwartz IVD.

PLoS One. 2017 Aug 31;12(8):e0184065. doi: 10.1371/journal.pone.0184065. eCollection 2017. Review.

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