Results 71 to 80 of about 1,596 (158)

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA [PDF]

Korean Journal of Pediatrics, 2012
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder.
Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin   +7 more
openaire   +3 more sources

in Korean patients with mucopolysaccharidosis IVA

, 2013
Mucopolysaccharidosis IVA (MPS IVA; OMIM #253000) is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme involved in the catabolism of keratan and chondroitin sulfate.
Park, HD, Kim, JW, Ko, AR, Dong‐Kyu Jin, Ah‐Ra Ko, Sung Yoon Cho, Young Bae Sohn, Kim, SH, Cho, SY, Lee, SY, Sohn, YB, Ki, CS, Jin, DK, Hyung‐Doo Park, Park, SW, Chang‐Seok Ki, Soo‐Youn Lee, Sung Won Park, Jong‐Won Kim, Se Hwa Kim   +19 more
core   +1 more source

Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA

, 2019
Mucopolysaccharidosis type IVA (MPS IVA) is a rare disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
Andrés Felipe Rojas-Rodriguez (6872237), Sergio Olarte-Avellaneda (6872219), Luisa Natalia Pimentel-Vera (6872231), Alexander Rodríguez-López (6872222), Esteban Guzman (6872225), Rong Li (72042), Carlos J. Alméciga-Diaz (6872213), Rafael Garzón (6872228), María Alejandra Puentes-Tellez (6872234), Oscar A. Hidalgo (6872216), Kirill Gorshkov (5752142), Wei Zheng (25452)   +11 more
core   +3 more sources

Loss of carbohydrate sulfotransferase 6 function leads to macular corneal dystrophy phenotypes and skeletal defects in zebrafish

The FEBS Journal, Volume 292, Issue 2, Page 373-390, January 2025.
Macular corneal dystrophy (MCD) is a rare disease leading to blindness. Here, the first preclinical MCD model was developed via the generation of carbohydrate sulfotransferase 6 (chst6) mutant zebrafish lines with CRISPR/Cas9 technology. Opaque aggregates typical of the disease were formed in the mutant fish eyes, and sulfated keratan sulfates were ...
Merve Basol, Esra Ersoz‐Gulseven, Helin Ozaktas, Sibel Kalyoncu, Canan Asli Utine, Gulcin Cakan‐Akdogan   +5 more
wiley   +1 more source

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene [PDF]

Journal of Medical Genetics, 2004
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase (GALNS; E.C.3.1.6.4; OMIM# 253000). GALNS is one of the sulfatases required to degrade glycosaminoglycans (GAGs), keratan sulfate (KS), and chondroitin-6-sulfate (C6S).
S, Tomatsu, T, Nishioka, A M, Montaño, M A, Gutierrez, O S, Pena, K O, Orii, W S, Sly, S, Yamaguchi, T, Orii, E, Paschke, S G, Kircher, A, Noguchi   +11 more
openaire   +2 more sources

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
Mary C. Theroux, Michael Beck, Renée Shediac, Theroux, Mary C, Lampe, Christian G, William G. Mackenzie, White, Klane K, Christina Lampe, Martin, Kenneth W, Christian J. Hendriksz, Beck, Michael, Harmatz, Paul R, Christian G. Lampe, Lampe, Christina, Mackenzie, William G, Hendriksz, Christian J, Paul R. Harmatz, Solanki, Guirish A, Klane K. White, Guirish A. Solanki, Shediac, Renée, Kenneth W. Martin   +21 more
core   +1 more source

Calculation of continuous reference intervals for biological parameters exhibiting strong age‐dependent level changes: Its application to glycosaminoglycans and sialic acid in urine

JIMD Reports, Volume 65, Issue 6, Page 442-449, November 2024.
Abstract Glycosaminoglycan (GAG) and sialic acid (total and free) assays are used as first‐line screening tests for the diagnosis of mucopolysaccharidoses and glycoproteinoses, respectively. There is a pronounced age‐dependent variation in the urinary concentrations of these metabolites in the normal population, and the stratification of the reference ...
Carlos Emilio Rodríguez, Mette Diswall, Anders Olsson, Torleif Jonsson, Eva Johansson, Maria Blomqvist   +5 more
wiley   +1 more source

Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients [PDF]

, 2012
Morquio A is classically described as a skeletal dysplasia, but the impact of the abnormalities on the upper limb has not been described.The aim of our study is to assess the level of subjective and objective functions of the hand and upper limb in Morquio A patients in order to advance understanding as this may change future management for this ...
Riffat, Aslam, Annelotte C M, van Bommel, Christian J, Hendriksz, Andrea, Jester   +3 more
openaire   +2 more sources

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Journal of Genetic Counseling, Volume 33, Issue 5, Page 1026-1034, October 2024.
Abstract The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis ...
Kelly Roche, Shama P. Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze   +5 more
wiley   +1 more source

Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia

Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of debilitating
Moeenaldeen AlSayed, Dia Arafa, Huda Al-Khawajha, Manal Afqi, Nouriya Al-Sanna’a, Rawda Sunbul, Maha Faden   +6 more
doaj   +1 more source