Results 1 to 10 of about 548,008 (322)

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

International Journal of Molecular Sciences, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +3 more sources

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. [PDF]

Orphanet Journal of Rare Diseases, 2019
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core   +3 more sources

Diagnosing mucopolysaccharidosis IVA [PDF]

Journal of Inherited Metabolic Disease, 2013
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of
A Fujimoto, A James, A Megarbane, A Ohashi, A Tylki-Szymanska, AI Arbisser, AL Beaudet, AM Montano, AN Doman, Andrea Schenone, C Prat, CA Pennock, CB Whitley, CB Whitley, CG Summers, Christian J. Hendriksz, Chunli Yu, D Krakow, David Ketteridge, DH Cohn, DW Hollister, E Baker, E Wessler, EF Neufeld, G Gray, G Kohn, G Nishimura, GR Fraser, H Groebe, H Northover, H Zhao, Heather J. Church, HV Dyggve, J Glossl, J Glossl, J Muenzer, J Nelson, J Singh, J Spranger, JE Wraith, JE Wraith, Jerry N. Thompson, JG Jong de, JG Jong de, JJ Hopwood, JN Isenberg, JP Hintze, K Longdon, K Nakamura, K Ullrich, Karen Tylee, Katie Harvey, LA Martell, LS Levin, M Aldenhoven, M Beck, M Burin, M Masuno, M Piraud, M Shohat, Maira Graeff Burin, Marzia Pasquali, Michael Beck, Michael Fietz, MP Whyte, MV Camelier, Nicole Miller, OP Diggelen van, Otto P. van Diggelen, P Harmatz, Paul Harmatz, R Hata, R Humbel, R Lawrence, R Matalon, Roberto Giugliani, S Catarzi, S Chaisomchit, S Fukuda, S Gosele, S Pajares, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, S Tomatsu, Sara M. Hawley, SB Frazier, T Dierks, T Khaliq, T Oguma, T Wood, T Yutaka, TA Duffey, Timothy C. Wood, TJ Lehman, V El Ghouzzi, VA McKusick, Vânia D’Almeida, W Holzgreve, WJ Kleijer, Wuh-Liang Hwu, Y Miyamoto, Y Nakashima, Yin-Hsiu Chien, Zoltan Lukacs, ZS Gucev   +106 more
core   +7 more sources

Mucopolysaccharidosis IVA and glycosaminoglycans [PDF]

Molecular Genetics and Metabolism, 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).
Shaukat, Khan, Carlos J, Alméciga-Díaz, Kazuki, Sawamoto, William G, Mackenzie, Mary C, Theroux, Christian, Pizarro, Robert W, Mason, Tadao, Orii, Shunji, Tomatsu   +8 more
openaire   +3 more sources

Three-dimensional human mucopolysaccharidosis IVA chondrocyte culture reveals significant impairments in the lysosomal-mitochondrial crosstalk [PDF]

Scientific Reports
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase enzyme. MPS IVA patients suffer from skeletal dysplasia due to the abnormal function of chondrocytes.
Andrés Felipe Leal, Sampurna Saikia, Shaukat A. Khan, Shunji Tomatsu   +3 more
doaj   +2 more sources

Chemotherapy in Combination With Radiotherapy for Definitive-Intent Treatment of Stage II-IVA Nasopharyngeal Carcinoma: CSCO and ASCO Guideline.

Journal of Clinical Oncology, 2021
PURPOSE The aim of this joint guideline is to provide evidence-based recommendations to practicing physicians and other healthcare providers on definitive-intent chemoradiotherapy for patients with stage II-IVA nasopharyngeal carcinoma (NPC).
Yupei Chen, Nofisat Ismaila, M. Chua, A. Colevas, R. Haddad, Shao Hui Huang, Joseph Wee, Alexander C. Whitley, J. Yi, S. Yom, Anthony T. C. Chan, Chaosu Hu, J. Lang, Q. Le, Anne Lee, N. Lee, Jin-Ching Lin, B. Ma, Thomas J. Morgan, J. Shah, Ying Sun, Jun Ma   +21 more
semanticscholar   +1 more source

LOS PRINCIPIOS DE NEUTRALIDAD Y PROPORCIONALIDAD COMO VECTORES DEL DERECHO DE DEDUCCIÓN EN EL IMPUESTO SOBRE EL VALOR AÑADIDO. UNA REVISIÓN CRÍTICA AL HILO DE LA SENTENCIA DEL TRIBUNAL DE JUSTICIA DE LA UNIÓN EUROPEA DE 18 DE MARZO DE 2021 (ASUNTO C-895/19) [PDF]

Crónica Tributaria, 2022
El trabajo tiene por objeto destacar la importancia de los principios de neutralidad y proporcionalidad en el ámbito del IVA y revisar el criterio de la jurisprudencia comunitaria del Tribunal de Justicia de la Unión Europea (TJUE) sobre las limitaciones
Konrad Pawel Slowinski
doaj   +1 more source

Phytochemical Profile, Antioxidant, Antimicrobial, and Antidiabetic Activities of Ajuga iva (L.)

Life, 2023
In Morocco, many applications in ethnomedicine on Ajuga iva (L.) have been recognized as able to treat various pathologies such as diabetes, stress, and microbial infections.
Soukaina Saidi, Firdaous Remok, N. Handaq, A. Drioiche, A. Gourich, N. Menyiy, S. Amalich, Mohamed Elouardi, Hanane Touijer, M. Bouhrim, L. Bouissane, Hiba-Allah Nafidi, Y. A. Bin Jardan, Mohammed Bourhia, T. Zair   +14 more
semanticscholar   +1 more source

LA CALIFICACIÓN DE LOS ESTABLECIMIENTOS PERMANENTES EN LAS OPERACIONES INTRACOMUNITARIAS: LAS TRANSFERENCIAS DE BIENES, LAS VENTAS DE BIENES EN CONSIGNA Y LAS OPERACIONES TRIANGULARES [PDF]

Crónica Tributaria, 2021
La calificación como establecimiento permanente o no de un almacén, depósito o centro logístico por un proveedor extranjero en el Estado miembro de llegada de los bienes introducirá una pluralidad de escenarios distintos en sede del IVA.
Mercedes Fuster Gómez
doaj   +1 more source

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
A. Leal, Javier Cifuentes, C. Torres, Diego A. Súarez, V. Quezada, S. Gómez, Juan C. Cruz, L. H. Reyes, A. Espejo-Mojica, C. Alméciga-Díaz   +9 more
semanticscholar   +1 more source