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Items: 1 to 20 of 171

1.
Correction: Barak, S. et al. “Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings”. Diagnostics 2020, 10, 108
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman
Diagnostics (Basel) 2020 Jul; 10(7): 480. Published online 2020 Jul 14. doi: 10.3390/diagnostics10070480
Corrects:
Diagnostics (Basel). 2020 Feb; 10(2): 108.
PMCID:
PMC7400141
CorrectionPubReaderPDF–147KCite
2.
Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A
Sergio Olarte-Avellaneda, Jacobo Cepeda Del Castillo, Andrés Felipe Rojas-Rodriguez, Oscar Sánchez, Alexander Rodríguez-López, Diego A. Suárez García, Luz Mary Salazar Pulido, Carlos J. Alméciga-Díaz
ACS Med Chem Lett. 2020 Jul 9; 11(7): 1377–1385. Published online 2020 Jun 24. doi: 10.1021/acsmedchemlett.0c00042
PMCID:
PMC7356376
ArticlePubReaderPDF–2.8MCite
3.
Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman
Diagnostics (Basel) 2020 Feb; 10(2): 108. Published online 2020 Feb 17. doi: 10.3390/diagnostics10020108
Correction in:
Diagnostics (Basel). 2020 Jul; 10(7): 480.
PMCID:
PMC7168314
ArticlePubReaderPDF–2.2MCite
4.
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A
Yadilette Rivera-Colón, Emily K. Schutsky, Adriana Z. Kita, Scott C. Garman
J Mol Biol. Author manuscript; available in PMC 2013 Nov 9.
Published in final edited form as: J Mol Biol. 2012 Nov 9; 423(5): 736–751. Published online 2012 Aug 29. doi: 10.1016/j.jmb.2012.08.020
PMCID:
PMC3472114
ArticlePubReaderPDF–3.8MCite
5.
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
H Groebe, M Krins, H Schmidberger, K von Figura, K Harzer, H Kresse, E Paschke, A Sewell, K Ullrich
Am J Hum Genet. 1980 Mar; 32(2): 258–272.
PMCID:
PMC1686002
SummaryPage BrowsePDF–2.0MCite
6.
Anesthetic Challenges in a Patient of Morquio Syndrome Associated with Acromegaly
Nidhi Singh, Rashi Sarna, Manjul Tripathi, Rajeev Chauhan, Sanjay Kumar
Ann Neurosci. 2022 Oct; 29(4): 245–248. Published online 2023 Jan 31. doi: 10.1177/09727531221137403
PMCID:
PMC10101157
ArticlePubReaderPDF–984KCite
7.
Dental Considerations for the Treatment of Patients with Morquio Syndrome
Anju Vinod, Sunil N Raj, Anitha Anand, Arjun Dilip Shirly
Int J Clin Pediatr Dent. 2022 Nov-Dec; 15(6): 707–710. doi: 10.5005/jp-journals-10005-2451
PMCID:
PMC9973083
ArticlePubReaderPDF–395KCite
8.
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies
Pavalan Selvam, Angita Jain, Jessica Abbott, Abhimanyu S. Ahuja, Anvir Cheema, Katelyn A. Bruno, Herjot Atwal, Irman Forghani, Thomas Caulfield, Paldeep S. Atwal
Mol Syndromol. 2022 Jul; 13(4): 282–289. Published online 2022 Mar 9. doi: 10.1159/000519326
PMCID:
PMC9421684
ArticlePubReaderPDF–772KCite
9.
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A
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
Mol Genet Metab Rep. 2022 Jun; 31: 100875. Published online 2022 May 3. doi: 10.1016/j.ymgmr.2022.100875
PMCID:
PMC9248232
ArticlePubReaderPDF–802KCite
10.
Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review
Lorena Diaz-Ordoñez, Estephania Candelo, Katherine Silva-Cuero, Wilmar Saldarriaga, Lenka Murgašová, Martin Magner, Harry Pachajoa
JMIR Res Protoc. 2022 Jun; 11(6): e32986. Published online 2022 Jun 7. doi: 10.2196/32986
PMCID:
PMC9214610
ArticlePubReaderCite
11.
Bilateral Perthes Masking Morquio Disease
Hugo Flores-Navarro, Douglas Colmenares-Bonilla
J Orthop Case Rep. 2021 Dec; 11(12): 47–51. doi: 10.13107/jocr.2021.v11.i12.2562
PMCID:
PMC8930368
ArticlePubReaderPDF–5.0MCite
12.
Understanding bias when estimating life expectancy from age at death: a simulation approach applied to Morquio syndrome A
Xue Yin, Jaeil Ahn, Simina M. Boca
BMC Res Notes. 2022; 15: 19. Published online 2022 Jan 15. doi: 10.1186/s13104-021-05894-0
PMCID:
PMC8760562
ArticlePubReaderPDF–1.4MCite
13.
Mucopolysaccharidosis type IV: report of 5 cases of Morquio Syndrome
Jorge Alejandro Cadena Arteaga, Fabricio Andres Lasso Andrade, Denny Marcela Achicanoy Puchana, Diana Fernanda Achicanoy Puchana, Gina Natalia Caicedo Morillo, Paola Andrea Medina Bravo, William Fernando Juez Neira, Cristian Ricardo Vanegas Bastidas, Diana Carolina Montoya Ríos, Karen Julieth Vasquez Correa, Laura Catalina Suárez Cuéllar, Lady Johana Osorio Segura
Radiol Case Rep. 2022 Feb; 17(2): 385–391. Published online 2021 Dec 3. doi: 10.1016/j.radcr.2021.11.012
PMCID:
PMC8649122
ArticlePubReaderPDF–1.7MCite
14.
Increased Choroidal Thickness in Morquio Syndrome
Augusto Magalhães, Rodrigo Vilares-Morgado, Ana Maria Cunha, Elisa Leão-Teles, Manuel Falcão, Ângela Carneiro, Fernando Falcão-Reis
Case Rep Ophthalmol. 2021 Sep-Dec; 12(3): 816–823. Published online 2021 Sep 27. doi: 10.1159/000518443
PMCID:
PMC8543289
ArticlePubReaderPDF–933KCite
15.
Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV)
Jose J. Salazar-Torres, Chris Church, Thomas Shields, M. Wade Shrader, Lydia Fisher, William G. Mackenzie, W. G. Stuart Mackenzie
Diagnostics (Basel) 2021 Aug; 11(8): 1350. Published online 2021 Jul 27. doi: 10.3390/diagnostics11081350
PMCID:
PMC8394369
ArticlePubReaderPDF–234KCite
16.
Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome
Madhavi V. Ratnagiri, Yan Zhu, Tariq Rahman, Mary Theroux, Shunji Tomatsu, Thomas H. Shaffer
Diagnostics (Basel) 2021 May; 11(5): 880. Published online 2021 May 15. doi: 10.3390/diagnostics11050880
PMCID:
PMC8156300
ArticlePubReaderPDF–1.7MCite
17.
Morquio Syndrome Presenting with Dural Band Pathology: A Case Report
Saloni Gupta, Kangana Sengar, Arulselvi Subramanian, Gurudatta Satyarthee
J Lab Physicians. 2020 Dec; 12(4): 285–288. Published online 2020 Dec 30. doi: 10.1055/s-0040-1722548
PMCID:
PMC7773441
ArticlePubReaderPDF–1.2MCite
18.
Lessons learned from surgical management of craniovertebral instability in Morquio syndrome: A series of four unusual cases
Suyash Singh, Jayesh Sardhara, Vandan Raiyani, Arun Kumar Srivastava, Sanjay Behari
J Craniovertebr Junction Spine. 2020 Jul-Sep; 11(3): 243–247. Published online 2020 Aug 14. doi: 10.4103/jcvjs.JCVJS_95_20
PMCID:
PMC7546054
ArticlePubReaderPDF–2.0MCite
19.
Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up
Andrea Gómez-González, Miguel Ángel Rosales-Berber, Paola De Ávila-Rojas, Amaury Pozos-Guillén, Arturo Garrocho-Rangel
Case Rep Dent. 2020; 2020: 2565486. Published online 2020 Jan 22. doi: 10.1155/2020/2565486
PMCID:
PMC7204358
ArticlePubReaderPDF–1.6MCite
20.
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
Yin-Hsiu Chien, Ni-Chung Lee, Pin-Wen Chen, Hui-Ying Yeh, Michael H. Gelb, Pao-Chin Chiu, Shao-Yin Chu, Chen-Hao Lee, An-Ru Lee, Wuh-Liang Hwu
Orphanet J Rare Dis. 2020; 15: 38. Published online 2020 Feb 3. doi: 10.1186/s13023-020-1322-z
PMCID:
PMC6998831
ArticlePubReaderPDF–601KCite

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