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Select item 72043581.

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

Abstract Article PDF–1.6M

Select item 55915052.

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

Sedigheh Shams, Maliheh Barazandeh Tehrani, Gabriel Civallero, Koosha Minookherad, Roberto Giugliani, Aria Setoodeh, Mohammad Taghi Haghi Ashtiani

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

PMCID:: PMC5591505

Abstract Article PDF–312K

Select item 111458933.

Delayed diagnosis of mild mucopolysaccharidosis type IVA

Mengni Yi, Pinquan Shen, Huiwen Zhang

BMC Med Genomics. 2024; 17: 151. Published online 2024 Jun 3. doi: 10.1186/s12920-024-01910-x

PMCID:: PMC11145893

Abstract Article PDF–2.3M

Select item 111453524.

Molecular therapy and nucleic acid adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice

Estera Rintz, Betul Celik, Nidhi Fnu, Angélica María Herreño-Pachón, Shaukat Khan, Eliana Benincore-Flórez, Shunji Tomatsu

Mol Ther Nucleic Acids. 2024 Jun 11; 35(2): 102211. Published online 2024 May 7. doi: 10.1016/j.omtn.2024.102211

PMCID:: PMC11145352

Abstract Article PDF–5.4M

Select item 111448215.

Anesthetic and Airway Management in a Pediatric Patient with Morquio Syndrome: A Case Report

Yves Kristine G. Garcia, Catherine Renee B. Reyes

Acta Med Philipp. 2024; 58(9): 35–38. Published online 2024 May 23. doi: 10.47895/amp.v58i9.8284

PMCID:: PMC11144821

Abstract Article PDF–742K

Select item 107834516.

Integrated Management of an Adult Patient with Mucopolysaccharidosis type IVA: A Case Report with a Six-Year Follow-up

Anita Vergatti, Veronica Abate, Matteo Della Monica, Gianpaolo De Filippo, Domenico Rendina, Antonio Barbato

Eur J Case Rep Intern Med. 2024; 11(1): 004113. Published online 2023 Dec 13. doi: 10.12890/2023_004113

PMCID:: PMC10783451

Abstract Article PDF–339K

Select item 107246917.

Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice

Andrés Felipe Leal, Betul Celik, Nidhi Fnu, Shaukat Khan, Shunji Tomatsu, Carlos Javier Alméciga-Díaz

Mol Ther Methods Clin Dev. 2023 Dec 14; 31: 101153. Published online 2023 Nov 7. doi: 10.1016/j.omtm.2023.101153

PMCID:: PMC10724691

Abstract Article PDF–2.4M

Select item 106711138.

Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks

Andrés Felipe Leal, Carlos Javier Alméciga-Díaz, Shunji Tomatsu

Int J Mol Sci. 2023 Nov; 24(22): 16148. Published online 2023 Nov 9. doi: 10.3390/ijms242216148

PMCID:: PMC10671113

Abstract Article PDF–1.2M

Select item 105318919.

Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts

Joanna Brokowska, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Węgrzyn

Int J Mol Sci. 2023 Sep; 24(18): 14119. Published online 2023 Sep 14. doi: 10.3390/ijms241814119

PMCID:: PMC10531891

Abstract Article PDF–1020K

Select item 1029822710.

Bone Growth Induction in Mucopolysaccharidosis IVA Mouse

Estera Rintz, Angélica María Herreño-Pachón, Betul Celik, Fnu Nidhi, Shaukat Khan, Eliana Benincore-Flórez, Shunji Tomatsu

Int J Mol Sci. 2023 Jun; 24(12): 9890. Published online 2023 Jun 8. doi: 10.3390/ijms24129890

PMCID:: PMC10298227

Abstract Article PDF–3.6M

Select item 1019016511.

Tracheal Narrowing in Children and Adults with Mucopolysaccharidosis Type IVA: Evaluation with CT Angiography

Lauren W. Averill, Heidi H. Kecskemethy, Mary C. Theroux, William G. Mackenzie, Christian Pizarro, Michael B. Bobe, Colleen Ditro, Shunji Tomatsu

Pediatr Radiol. Author manuscript; available in PMC 2023 May 17.

Published in final edited form as: Pediatr Radiol. 2021 Jun; 51(7): 1202–1213. Published online 2021 Feb 20. doi: 10.1007/s00247-020-04946-0

PMCID:: PMC10190165

Abstract Article PDF–596K

Select item 1005984412.

Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA

Yi-Hao Lee, Chin-Hui Su, Che-Yi Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Kuo-Sheng Lee

J Pers Med. 2023 Mar; 13(3): 494. Published online 2023 Mar 9. doi: 10.3390/jpm13030494

PMCID:: PMC10059844

Abstract Article PDF–3.6M

Select item 960241113.

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family

Saima Ghafoor, Karina da Costa Silveira, Raheel Qamar, Maleeha Azam, Peter Kannu

Genes (Basel) 2022 Oct; 13(10): 1743. Published online 2022 Sep 27. doi: 10.3390/genes13101743

PMCID:: PMC9602411

Abstract Article PDF–1.7M

Select item 940977314.

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis

Chung-Lin Lee, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

J Pers Med. 2022 Aug; 12(8): 1338. Published online 2022 Aug 20. doi: 10.3390/jpm12081338

PMCID:: PMC9409773

Abstract Article PDF–2.7M

Select item 933598815.

Adjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study

Ya-Ting Jan, Pei-Shan Tsai, Wen-Hui Huang, Shih-Chieh Huang, Yu-Peng Liu, She-Meng Cheng, Kun-Shuo Huang

Orphanet J Rare Dis. 2022; 17: 296. Published online 2022 Jul 29. doi: 10.1186/s13023-022-02449-9

PMCID:: PMC9335988

Abstract Article PDF–935K

Select item 929110016.

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, Ana Carolina Brusius‐Facchin, Yin‐Hsiu Chien, Roberto Giugliani, Emanuela Izzo, David C. Kasper, Hsiang‐Yu Lin, Shuan‐Pei Lin, Laura Pollard, Akashdeep Singh, Rodolfo Tonin, Tim Wood, Amelia Morrone, Rosella Tomanin

Hum Mutat. 2021 Nov; 42(11): 1384–1398. Published online 2021 Aug 23. doi: 10.1002/humu.24270

PMCID:: PMC9291100

Abstract Article PDF–2.0M

Select item 928915017.

Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads

Yiyang Ma, Hao Peng, Fuchou Hsiang, Haoyu Fang, Dajiang Du, Chenyi Jiang, Yehui Wang, Chun Chen, Changqing Zhang, Yun Gao

Front Pediatr. 2022; 10: 914889. Published online 2022 Jul 4. doi: 10.3389/fped.2022.914889

PMCID:: PMC9289150

Abstract Article PDF–13M

Select item 924823218.

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