Relevant bibliographies by topics / Maroteaux-Lamy

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters
  4. Conference papers

Academic literature on the topic 'Maroteaux-Lamy'

Author: Grafiati
Published: 2 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Maroteaux-Lamy"

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Al-Mosawi, Aamir. "Clinical and Radiologic Diagnosis of a Patient with Maroteaux-Lamy Syndrome." Series of Medical Science 1, no. 1 (2020): 1–5. https://doi.org/10.5281/zenodo.4624696.

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Al-Mosawi AJ. Clinical and Radiologic Diagnosis of a Patient with Maroteaux-Lamy Syndrome. Series of Medical Science 2020 January13 ;:1(1):1-5. Doi: 10.5281/zenodo.4624696 https://seriesscience.com/wp-content/uploads/2020/01/Maroteaux-Lamy-Syndrome.pdf
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2

Lakhotia, Siddharth, Alok Sharma, G. P. Shrivastava, and S. K. Jain. "Maroteaux-Lamy Syndrome." Indian Journal of Pediatrics 71, no. 10 (2004): 933–35. http://dx.doi.org/10.1007/bf02830840.

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Bell, Douglas JW, Cheng He, John L. Pauli, and Rishendran Naidoo. "Maroteaux-Lamy syndrome: a rare and challenging case of mitral valve replacement." Asian Cardiovascular and Thoracic Annals 26, no. 7 (2016): 560–62. http://dx.doi.org/10.1177/0218492316675533.

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Maroteaux-Lamy syndrome is a very rare multisystem disorder. Cardiac valve surgery is common in these patients who present a unique set of perioperative and intraoperative challenges to the surgeon and treating team. We describe successful mitral valve replacement using an inverted aortic prosthesis in a 29-year-old lady with Maroteaux-Lamy syndrome, with a good result at 10 months.
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Hasanova, Ravana, and Tamilla Gulieva. "PATHOLOGIES OBSERVED IN THE ORGAN OF VISION IN SOME GENETIC SYNDROMES (CLINICAL CASES)." Azerbaijan Journal of Ophthalmology, no. 2025/17/01/52 (April 8, 2025): 59–70. https://doi.org/10.71110/ajo791020251701525970.

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The article presents clinical cases of ocular pathologies that we have encountered in various genetic syndromes. The object of the study were children with various rare genetic syndromes who applied to the Medical Expert Commission of the National Ophthalmology Centre named after Academician Zarifa Aliyeva in 2023. In particular, Fraser, Pierson, Maroteaux-Lamy, Warburg-Micro and Bardet-Biedl syndromes were presented, as well as pathologies that these syndromes caused in the organ of vision. It should be noted that the children were born to firstdegree consanguineous marriages. Key words: cons
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Mtar, Aida, Bassem Charfeddine, Imen Braham, et al. "Maroteaux-Lamy syndrome: a case report." Annales de biologie clinique 69, no. 6 (2011): 693–97. http://dx.doi.org/10.1684/abc.2011.0627.

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Laver, Nora M. V., Miles H. Friedlander, and Ian W. McLean. "Mild Form of Maroteaux—Lamy Syndrome." Cornea 17, no. 6 (1998): 664. http://dx.doi.org/10.1097/00003226-199811000-00015.

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Cantor, Louis B., Jean A. Disseler, and Fred M. Wilson. "Glaucoma in the Maroteaux-Lamy Syndrome." American Journal of Ophthalmology 108, no. 4 (1989): 426–30. http://dx.doi.org/10.1016/s0002-9394(14)73311-2.

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Magalhães, Augusto, Jorge Meira, Ana Maria Cunha, et al. "Fundoscopic Changes in Maroteaux-Lamy Syndrome." Case Reports in Ophthalmological Medicine 2019 (December 28, 2019): 1–4. http://dx.doi.org/10.1155/2019/4692859.

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Purpose. To describe a clinical case of mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, with fundoscopic alterations that may correspond to scleral deposits of glycosaminoglycans. Materials and Methods. Clinical case report. Results. A 16-year-old girl with MPS VI was examined at the Ophthalmology Department for poor vision due to opacified corneas. Treatment consisted of bilateral penetrating keratoplasty. Retinographies and enhanced depth imaging optical coherence tomography (EDI-OCT) were performed after surgery, suggesting the presence of scleral glycosaminoglycan depos
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Varssano, David. "Corneal Transplantation in Maroteaux-Lamy Syndrome." Archives of Ophthalmology 115, no. 3 (1997): 428. http://dx.doi.org/10.1001/archopht.1997.01100150430024.

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Stürmer, J. "Mukopolysaccharidose Typ VI-A (Morbus Maroteaux-Lamy)." Klinische Monatsblätter für Augenheilkunde 194, no. 04 (1989): 273–81. http://dx.doi.org/10.1055/s-2008-1046370.

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Dissertations / Theses on the topic "Maroteaux-Lamy"

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Garrido, Fernández Elena. "Análisis genético y molecular del síndrome de Maroteaux-Lamy." Doctoral thesis, Universitat de Barcelona, 2008. http://hdl.handle.net/10803/1893.

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Esta tesis es una contribución al conocimiento del síndrome de Maroteux-Lamy en el terreno de la genética molecular. El síndrome de Maroteaux-Lamy o mucopolisacaridosis de tipo VI (MPS VI) es una grave enfermedad hereditaria muy poco frecuente en humanos, provocada por la deficiencia de un único gen, que codifica la hidrolasa lisosómica N-acetilgalactosamino-4-sulfatasa o arilsulfatasa B (ARSB). <br/><br/>La primera publicación incluída en la tesis engloba los resultados del análisis de las mutaciones encontradas en el gen ARSB de pacientes españoles y argentinos con MPS VI. Se han identificad
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Martinez, Elke [Verfasser]. "Gentechnische Modifikationen der Arylsulfatase B zur Entwicklung von Therapien für das Maroteaux-Lamy-Syndrom / vorgelegt von Elke Martinez." 2002. http://d-nb.info/964430339/34.

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Book chapters on the topic "Maroteaux-Lamy"

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Lindquist, T. Peter, and W. Barry Lee. "Maroteaux-Lamy Syndrome." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-35951-4_941-1.

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Lindquist, T. Peter, and W. Barry Lee. "Maroteaux-Lamy Syndrome." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_941.

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Oette, Mark, Marvin J. Stone, Hendrik P. N. Scholl, et al. "Maroteaux-Lamy Syndrome." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6310.

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Wraith, James E. "Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)." In Lysosomal Storage Disorders. Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_28.

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Quartel, Adrian, Christian J. Hendriksz, Rossella Parini, Sue Graham, Ping Lin, and Paul Harmatz. "Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)." In JIMD Reports. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/8904_2014_333.

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Pineda, M., M. O’Callaghan, A. Fernandez Lopez, M. J. Coll, R. Ullot, and G. Garcia-Fructuoso. "Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome." In JIMD Reports. Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/8904_2016_530.

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Zanetti, Alessandra, Neslihan Önenli-Mungan, Nursel Elcioglu, et al. "Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene." In JIMD Reports. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/8904_2013_276.

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"Maroteaux-Lamy Syndrome." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_9893.

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9

"Maroteaux-Lamy disease." In Dictionary of Rheumatology. Springer Vienna, 2009. http://dx.doi.org/10.1007/978-3-211-79280-3_696.

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"Mucopolysaccharidosis Type VI (Maroteaux-Lamy disease)." In Dictionary of Rheumatology. Springer Vienna, 2009. http://dx.doi.org/10.1007/978-3-211-79280-3_737.

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Conference papers on the topic "Maroteaux-Lamy"

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Fonseca, Karolina Pinheiro, LETÍCIA MARIA ALVES PESSOA SOARES, LARA FERREIRA CHAVES GOMES DE CASTRO, SARAH CAROLINY OLIVEIRA SERRA MAGALHÃES, and SAMARA TATIELLE M. GOMES. "OBSERVAÇÃO IMUNOLÓGICA E GENÉTICA DAS MUCOPOLISSACARIDOSES." In II Congresso Brasileiro de Imunologia On-line. Revista Multidisciplinar em Saúde, 2022. http://dx.doi.org/10.51161/ii-conbrai/6913.

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Introdução: As Mucopolissacaridoses (MPS) são doenças hereditárias e progressivas de acúmulo lisossomal de glicosaminoglicanos (GAGs). Esse acúmulo de GAGs é decorrente da deficiente ação metabolizadoras das enzimas lisossomais, gerando o depósito nos lisossomos de diversos tecidos e órgãos, desencadeando modificações morfofuncionais. O início das manifestações das mucopolissacaridoses ocorrem nos primeiros meses de vida, com piora progressiva e, em geral, com comprometimento em ossos, articulações, via respiratória, sistema cardiovascular e sistema nervoso. Objetivo: Compreender os aspectos i
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Journal articles
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