Results 31 to 40 of about 1,596 (158)

Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management

Педиатрическая фармакология, 2022
Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy ...
Yulia P. Semschikova, Yurii A. Kozlov, Andrei B. Yakovlev, Vera M. Shinkareva, Tatyana V. Barzunova, Natalia I. Manjkova, Evgenii A. Balakirev   +6 more
doaj   +2 more sources

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA. [PDF]

Appl Clin Genet, 2018
As mucopolysaccharidosis IVA (MPS IVA) is the most frequent MPS in Colombia, this paper aims to describe its clinical and mutational characteristics in 32 diagnosed patients included in this study.Genotyping was completed by amplification and Sanger sequencing of the GALNS gene.
Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, Velasco HM.   +6 more
europepmc   +5 more sources

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA

International Journal of Molecular Sciences
Mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome) is a rare inherited disorder characterized by skeletal dysplasia due to deficient N-acetylgalactosamine-6-sulfate sulfatase activity, resulting in glycosaminoglycan (GAG) accumulation. Identifying accurate biomarkers reflecting clinical severity and therapeutic response remains challenging ...
Yasuhiko Ago, Shaukat Khan, Kimberly Klipner, Allison Bradford, Shunji Tomatsu   +4 more
core   +5 more sources

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA [PDF]

Orphanet Journal of Rare Diseases, 2014
Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. This disease has a variable age of onset and rate of progression.A retrospective analysis of medical records of 24 ...
Lin, Hsiang-Yu, Chuang, Chih-Kuang, Chen, Ming-Ren, Chiu, Pao, Ke, Yu-Yuan, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Lin, Ju-Li, Lin, Shuan-Pei   +9 more
openaire   +3 more sources

Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease

Frontiers in Cardiovascular Medicine, 2022
Cardiovascular disease (CVD) in Mucopolysaccharidosis Type IVA (Morquio A), signified by valvular disease and cardiac hypertrophy, is the second leading cause of death and remains untouched by current therapies.
Brittany Montavon, Linda E. Winter, Qi Gan, Amirhossein Arasteh, Adriana M. Montaño, Adriana M. Montaño   +5 more
doaj   +3 more sources

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA [PDF]

Frontiers in Pediatrics
Treating Acute Lymphoblastic Leukemia (ALL) in patients with genetic disorders poses significant challenges for onco-hematologists. Mucopolysaccharidosis type IVA (MPS-IVA) is a lysosomal storage disorder that clinically manifests with progressive and ...
Sofia Maria Carlotta Arnaboldi, Sofia Maria Carlotta Arnaboldi, Martha Caterina Faraguna, Martha Caterina Faraguna, Antonella Colombini, Alessandra Sala, Veronica Leoni, Marco Spinelli, Giacomo Gotti, Laura Rachele Bettini, Laura Rachele Bettini, Viola Crescitelli, Anna Commone, Serena Gasperini, Carmelo Rizzari, Carmelo Rizzari   +15 more
doaj   +2 more sources

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

Journal of Personalized Medicine, 2023
Mucopolysaccharidosis (MPS) is a hereditary disorder arising from lysosomal enzymes deficiency, with glycosaminoglycans (GAGs) storage in connective tissues and bones, which may compromise the airway. This retrospective study evaluated patients with MPS type IVA with airway obstruction detected via endoscopy and imaging modalities and the effects of ...
Yi-Hao Lee, Chin-Hui Su, Che-Yi Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Kuo-Sheng Lee   +6 more
openaire   +3 more sources

Recent advances in mucopolysaccharidosis IVA treatment. [PDF]

Orphanet J Rare Dis
Abstract Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare lysosomal storage disorder caused by mutations in the GALNS gene, resulting in N-acetylgalactosamine-6-sulfatase (GALNS) deficiency and accumulation of keratan sulfate and chondroitin-6-sulfate.
Leal AF, Pachajoa H.
europepmc   +3 more sources

Mucopolysaccharidosis IVA and glycosaminoglycans. [PDF]

Mol Genet Metab, 2017
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS).
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S.   +8 more
europepmc   +4 more sources

CRISPR/nCas9-Edited CD34+ Cells Rescue Mucopolysaccharidosis IVA Fibroblasts Phenotype. [PDF]

Int J Mol Sci
Mucopolysaccharidosis (MPS) IVA is a bone-affecting lysosomal storage disease (LSD) caused by impaired degradation of the glycosaminoglycans (GAGs) keratan sulfate (KS) and chondroitin 6-sulfate (C6S) due to deficient N-acetylgalactosamine-6-sulfatase ...
Herreno-Pachón AM, Leal AF, Khan S, Alméciga-Díaz CJ, Tomatsu S.   +4 more
europepmc   +3 more sources