Results 111 to 120 of about 5,033 (231)

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

The spine lateral bending and the dynamic chest compression principles for concomitant orthotic treatment of scoliosis and pectus deformities Los principios de inclinación lateral de la columna vertebral y compresión dinámica del tórax para tratamiento ortótico concomitante de la escoliosis asociada a deformidades pectus Os principios da inclinação lateral da coluna e compressão dinâmica do tórax para tratamento ortótico concomitante da escoliose associada a deformidades pectus

Coluna/Columna, 2011
OBJECTIVE:To investigate a concomitant orthotic treatment for coexisting scoliosis and pectus deformities. No detailed study on such concomitancy was found in literature.
Sydney Abrão Haje, Davi de Podestá Haje, Gustavo Eduardo Vieira Martins, Mariana Gonçalves Ferrer   +3 more
doaj   +1 more source

Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment [PDF]

, 2010
Background Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease.
Barbara Jasiewicz, Tomasz Potaczek, Maciej Tesiorowski, Krzysztof Lokas   +3 more
core   +2 more sources

Mowat-Wilson syndrome [PDF]

, 2007
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes ...
Livia Garavelli, Paola Cerruti Mainardi, DR Mowat, N Wakamatsu, V Cacheux, P Cerruti-Mainardi, C Zweier, L Garavelli, J Amiel, K Yamada, DR Mowat, M Wilson, C Zweier, P Cerruti-Mainardi, H Kääriäinen, IW Lurie, M Nagaya, L Garavelli, J McGaughran, C Zweier, MP Adam, W Heinritz, C Zweier, F Dastot-Le Moal, L Sztriha, D Horn, N Ishihara, A Rauch, M Yoneda, CY Gregory-Evans, MJV Hoffer, M Silengo, M Silengo, N Ishihara, H Dolk, JE Remacle, K Verschueren, M Watanabe, Y Shi, Y Espinosa-Parrilla, G Bassez, Y Espinosa-Parrilla, J Amiel, T Van de Putte, RB Goldberg, AS Brooks, AS Brooks, MA Parisi, E Passarge, Y Espinosa-Parrilla   +49 more
core   +2 more sources

Experiencia con la reconstrucción quirúrgica de las deformidades de la pared torácica

Acta Médica Costarricense, 2010
Objetivo: Analizar las características clínicas, indicación para realizar la intervención y los resultados de la cirugía de pacientes con deformidades de la pared torácica.
Jose A Mainieri-Hidalgo, Mauricio Rivera-Cerdas   +1 more
doaj  

International guidelines for the management and treatment of Morquio A syndrome. [PDF]

, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian J, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Savarirayan, Ravi, Villarreal, Martha Solano   +8 more
core   +2 more sources

Hypertrophic cardiomyopathy combined with renal and adrenal aplasia in a male with Noonan syndrome from RAF1 variant

ESC Heart Failure, Volume 12, Issue 3, Page 2371-2376, June 2025.
Ying Wang, Guizhou Ma, Dianyu Cai, Jierong Yao, Bingying Huang, Chaojian Wu, Xiaoling Liu, Zhixiong Cai   +7 more
wiley   +1 more source

Abordagem ortopédica das deformidades pectus: 32 anos de estudos Orthopaedic approach to pectus deformities: 32 years of studies

Revista Brasileira de Ortopedia, 2009
Os autores resumem experiência de 32 anos no estudo e na abordagem não cirúrgica das deformidades pectus carinatum e pectus excavatum. Dados de 4.012 pacientes portadores de deformidades pectus foram coletados de 1977 a janeiro de 2009, permitindo ...
Sydney Abrão Haje, Davi de Podestá Haje   +1 more
doaj   +1 more source

Evaluation of spinal posture using Microsoft Kinect™: a preliminary case-study with 98 volunteers [PDF]

, 2017
This work proposes a novel approach to assess spinal curvature, by using Microsoft's Kinect™ to obtain 3D reconstructed models of subject's dorsal skin surface in different postures. This method is non-invasive, radiation-free and low-cost.
Boisvert, Clark, Claus, Cote, Diego-Mas, Dutta, Ebraheim, Edmondston, Ernst, Grossman, Gunning, Kadoury, Keynan, Korakakis, Kuklo, Mabb, OSullivan, OSullivan, Panjabi, Patias, Pazos, Ranavolo, Seffinger, Seidler, Shirazi-Adl, Stokes, Sutherland, Szeto, Wong   +28 more
core   +1 more source

Options for correction of the Pectus carinatum

, 2023
Markushin Viktor Aleksandrovich, Hayaliev Rustem Yakubovich, Rakhimiy Sharif Uktamovich   +2 more
openalex   +2 more sources