Results 161 to 170 of about 1,973 (193)

The histological and ultrastructural features of the epiphyseal plate in morquio type a syndrome (Mucopolysaccharidosis type IVA)

Pathology, 1986
Tissue from the epiphyseal plate of a patient with Morquio type A syndrome (mucopolysaccharidosis type IVA) was studied by undecalcified histological and electron microscopical techniques. Cartilage cells in the plate were vacuolated to a variable degree.
J, McClure, P S, Smith, G, Sorby-Adams, J, Hopwood   +3 more
openaire   +2 more sources

Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan

Genetics in Medicine
Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalactosamine-6-sulfatase.From September 2019 to October 2023, a total of 264,843 Taiwanese newborns underwent screening for MPS IVA using dried blood spots and tandem mass spectrometry.Among the 95 referred infants, 9 (9%) were confirmed to ...
Hsiang-Yu Lin, Chung-Lin Lee, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Dau-Ming Niu, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Chih-Kuang Chuang, Shuan-Pei Lin   +14 more
openaire   +2 more sources

Genome editing in mucopolysaccharidosis type IVA fibroblasts using CRISPR/Cas9

Molecular Genetics and Metabolism, 2022
Diego A. Suárez, Carlos J. Alméciga
openaire   +1 more source

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.

Current pharmaceutical biotechnology, 2011
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS), which catalyzes a step in the catabolism of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S).
S, Tomatsu, A M, Montaño, H, Oikawa, M, Smith, L, Barrera, Y, Chinen, M M, Thacker, W G, Mackenzie, Y, Suzuki, T, Orii   +9 more
openaire   +1 more source

Cochlear implantation in a patient with mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism, 2020
Shunji Tomatsu, Kyoko Nagao, Cassidy Walter, William J. Parkes, Michael Teixido, Mary C. Theroux, Stacy Szymkowski, Thierry Morlet   +7 more
openaire   +1 more source

Bone health in mucopolysaccharidosis type IVA (Morquio syndrome)

Molecular Genetics and Metabolism, 2014
John Mitchell, Mouna Ben Amor, Louis-Nicholas Veilleux, Jason Steinmetz, Frank Rauch   +4 more
openaire   +1 more source

An overview of real‐world data sources for oncology and considerations for research

Ca-A Cancer Journal for Clinicians, 2022
Lynne Penberthy, Donna R Rivera, Jennifer L Lund, Msph   +2 more
exaly  

Substrate degradation enzyme therapy (SDET) for mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism, 2018
Shunji Tomatsu, Kazuki Sawamoto, Tokiko Sakai, Ikue Kitazawa, Hideyuki Futatsumori, Takehiko Nakamura   +5 more
openaire   +1 more source

Health insurance status and cancer stage at diagnosis and survival in the United States

Ca-A Cancer Journal for Clinicians, 2022
Jingxuan Zhao, Xuesong Han, Leticia M Nogueira   +2 more
exaly  

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

Human Molecular Genetics, 1995
Shunji Tomatsu, Seiji Fukuda, Alan Cooper, James E. Wraith, Golam Md. Maruf Rezvi, Atsushi Yamagishi, Naoto Yamada, Zenichiro Kato, Koji Isogai, Kazuko Sukegawa, Naomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Tadao Orii   +13 more
openaire   +2 more sources