Results 61 to 70 of about 335,224 (186)

Prenatal diagnosis of morquio disease type A using a simple fluorometric enzyme assay [PDF]

, 1990
A new fluorogenic substrate, 4 methylumbelliferyl B-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than
Diggelen, O.P. (Otto) van, Huijmans, J.G.M. (Jan), Kleijer, W.J. (Wim), Mazurczak, T., Thoomes, R. (R.), Young, E., Zhao, H. (Hui)   +6 more
core   +5 more sources

Obstructive airway in Morquio A syndrome, the past, the present and the future. [PDF]

Mol Genet Metab, 2016
Tomatsu S, Averill LW, Sawamoto K, Mackenzie WG, Bober MB, Pizarro C, Goff CJ, Xie L, Orii T, Theroux M.   +9 more
europepmc   +2 more sources

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

Korean Journal of Pediatrics, 2012
PurposeMucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency.
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
doaj   +1 more source

I-gel assisted fiberoptic intubation in a child with Morquio′s syndrome

Saudi Journal of Anaesthesia, 2015
Morquio′s syndrome, also known as mucopolysaccharidosis type IV is an autosomal recessive disorder, caused by deficiency of n-acetylgalactosamine-6-sulphate.
Sangeeta Dhanger, Sethuramachandran Adinarayanan, Stalin Vinayagam, Mohanasundaram Praveen Kumar   +3 more
doaj   +1 more source

Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]

, 2018
We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James, Chakrapani, Anupam, Frisson, S., Gissen, Paul, Hendriksz, Chris, Kearney, Shauna, MacDonald, Anita, Olson, Andrew, Vijay, Suresh   +8 more
core   +3 more sources

General anaesthesia in an adult patient with Morquio syndrome with emphasis on airway issues

Biomolecules & Biomedicine, 2012
Patients with Morquio syndrome possess a number of characteristics which may complicate an anaesthetic procedure. The most important is that a deposition of mucopolysaccharides in the soft tissues of the oro-pharynx distorts the airway, making the airway
Lajla Kadić, Jacques J. Driessen
doaj   +1 more source

Diagnosing mucopolysaccharidosis IVA [PDF]

, 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   +4 more sources

Morquios Syndrome: A Rare Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2013
Morquio’s syndrome is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfate. It was first described in 1929 by Morquio and Brailsford. Morquio’s syndrome is characterized by a defect in the degradation of keratin sulfate resulting in the accumulation of mucopolysaccharides.
Vidya Sagar Mopagar, Mithesh D Kathariya, T Umapathy, T Premkishore, Chandrashekar, Ashish Raurale   +5 more
openaire   +2 more sources

A case of two siblings with Morquio syndrome

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2021
Morquio syndrome (Type IV mucopolysaccharidosis) is an autosomal recessive condition with a prevalence of 1:40000 to 1:200000.1 The deficiencies of N-acetyl-galactosamine-6-sulfatase and beta-galactosidase leads to accumulation of glycosaminoglycan resulting Morquio syndrome type A and B respectively. Here, we report a case of two siblings with Morquio
I. Kankananarachchi, S. Amarasena
openaire   +2 more sources

Morquio A syndrome: differential diagnosis of disproportionate short stature

Residência Pediátrica, 2022
Short stature is defined as a condition in which the height of the individuals is below the third percentile or two standard deviations below the expected average for children of the same age and sex.
J. Ferreira, Kaio Silva, Kimbali Ventureli, L. Goulart, M. Rodrigues, Z. Carneiro, Rosalvo Streit Júnior, C. Lourenço   +7 more
semanticscholar   +1 more source