Results 51 to 60 of about 5,240 (183)

Successful airway management with King Vision device in a child with Morquio syndrome: case report

Revista de la Facultad de Ciencias de la Salud, 2017
Morquio syndrome also called type IV mucopolysaccharidosis, is a condition produced by lysosomal deposit. Morquio syndrome have several implications in the airway management because is characterized by C1-C2, instability, short height, cervical spine ...
Lina Maritza Guerra, Mario Andrés Zamudio, Jonny Arbey Salazar   +2 more
doaj   +2 more sources

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy [PDF]

, 2012
Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI).
Miranda, CM Sá, Sá Miranda CM, R. Giugliani, Harmatz P., da Silva, E Dias, Sá Miranda, C M, Rosenfeld H, Guffon N, J. Johnson, G. Gildengorin, Schatz A, Beck M, Richardson M, Harmatz P, M. Imperiale, Imperiale, M, null null, Beck, M, Gildengorin, G, Decker, C, M. Richardson, C. Decker, Teles, E., Beck, M., Dias da Silva E, J. J. Hopwood, SCARPA, MAURIZIO, Ketteridge D, P. Barrios, Richardson, M., Kurio, G., Schwartz, IV, Imperiale, M., Giugliani R, Braunlin, E, Gildengorin, G., C. M. Sá Miranda, Ketteridge, D, Group, MPS VI Study, Wraith JE, Kurio G, Harmatz, P, Guffon, N, Kampmann, C., Decker C, G. Kurio, Schwartz IV, Braunlin, E., Hopwood, J., E. Dias da Silva, Barrios P, Kampmann, C, Giugliani, R, C. Kampmann, Hopwood, JJ, Imperiale M, E. Braunlin, Braunlin E, Dias da Silva, E., Scarpa, M, Wraith, JE, Schwartz, I., J. E. Wraith, I. V. Schwartz, Gildengorin G, Johnson, J, Leão Teles, E, Wraith, J E, Rosenfeld, H, Rosenfeld, H., MPS VI Study Group, et al., Wraith, J., Johnson J, A. Schatz, M. Scarpa, Kampmann C, Leão Teles E, E. Leão Teles, Hopwood, J J, N. Guffon, Ketteridge, D., H. Rosenfeld, Schatz, A, Richardson, M, D. Ketteridge, Hopwood JJ, Johnson, J., Guffon, N., Barrios, P, Barrios, P., M. Beck, Miranda, C., Scarpa, M., Kurio, G, P. Harmatz, Giugliani, R., Schwartz, I V, Teles, E Leão, Dias da Silva, E   +99 more
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Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity [PDF]

, 2017
Background: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The loss of GALNS activity leads to the
Shams, Sedigheh, Barazandeh-Tehrani, Maliheh, Minookherad, Koosha, Giugliani, Roberto, Haghi-Ashtiani, Mohammad Taghi, Civallero, Gabriel Eduardo Santiago, Setoodeh, Aria   +6 more
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Mucopolysaccharidosis type IV A (Morquio Syndrome type A): clinical features, genetic studies, preventive management of complications and genetic counseling.

, 2022
Introducción: la Mucopolisacaridosis tipo IV A (OMIM #253000), es una enfermedad autosómica recesiva que pertenece al grupo de enfermedades de depósito lisosomal, esta fue descrita inicialmente por Luis Morquio, cuya etiología es la defciencia de la ...
Contreras-García, Gustavo Adolfo, Suárez-Guerrero, Jorge Luis, Vargas Santos, María Carolina, Bello Suárez, Angie Katherine   +3 more
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Cervical Cord Decompression and Posterior Cervical Immobilization Following Anterior C1-C2 Subluxation in a Patient with MPS Type IV (Morquio Syndrome) : A Team Approach

Siriraj Medical Journal, 2003
We report a 23 month old gril who presented with right hemiparesis after falling for 6 months. She was also diagnosed with mucopolysaccharidosis type IV (Morquio syndrome) with C1-C2 subluxation.
Suwannee Suraseranivongse, Pornswan Wasant, Achara Sathienkijkanchai, Surin Thanapipatsiri   +3 more
doaj  

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

Diagnostics, 2020
Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy.
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin   +8 more
doaj   +1 more source

LATE DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS TYPE IV (MAROTEAUX–LAMY SYNDROME)

Vestnik travmatologii i ortopedii imeni N.N. Priorova, 2017
Peculiarities of the clinical manifestation of mucopolysaccharidosis type IV diagnosed at the age of 30 years only are presented. In spite of favorable disease course after the age of 30 years combined vertebral canal stenosis more marked at C0-C1 level, cervical myelopathy and spastic tetraparesis that required surgical intervention. Special attention
Luydmila K. Mikhailova, O. A Polyakova, E. Yu Zakharova, E. Yu Voskoboeva, A. A Kuleshov, M. S Vetrile, I. N Lisyanskiy   +6 more
openaire   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis

, 2021
Background: Mucopolysaccharidosis (MPS) is a rare congenital lysosomal storage disorder with complex airways. High anterior larynx is assessed by thyromental distance (TMD) nasendoscopy. A simpler method to assess this hyoid bone is described.
Chaitanya Gadepalli, Karolina M. Stepien, Govind Tol   +2 more
core   +1 more source

Biomarcadores para diagnóstico de enfermedades lisosomales: Pompe, Gaucher y Mucopolisacaridosis tipo III y IV, para aplicación en Ecuador

, 2021
Las enfermedades lisosomales son patologías originadas por alteraciones en la síntesis o función de las enzimas lisosomales, presentan diversidad de manifestaciones clínicas, por lo que su diagnóstico se dificulta.
Montalvo Moreta, Nathalya Odalys
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