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anaesthetics (2) 2
analysis (2) 2
anesthetics (2) 2
enzyme replacement therapy (2) 2
enzymes (2) 2
ert (2) 2
genetics & heredity (2) 2
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mucopolysaccharidosis (2) 2
mutation (2) 2
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1. Full Text Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
by Akyol, MU and Alden, TD and Amartino, H and Ashworth, J and Belani, K and Berger, KI and Borgo, A and Braunlin, E and Eto, Y and Gold, JI and Jester, A and Jones, SA and Karsli, C and Mackenzie, W and Marinho, DR and McFadyen, A and McGill, J and Mitchell, JJ and Muenzer, J and Okuyama, T and Orchard, PJ and Stevens, B and Thomas, S and Walker, R and Wynn, R and Giugliani, R and Harmatz, P and Hendriksz, C and Scarpa, M and MPS Consensus Programme Steeri and MPS Consensus Programme Co and MPS Consensus Programme Steering Committee and MPS Consensus Programme Co-Chairs
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 06/2019, Volume 14, Issue 1, pp. 137 - 25
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the... 
MPS IVA | MEDICINE, RESEARCH & EXPERIMENTAL | OBSTRUCTIVE SLEEP-APNEA | Morquio a syndrome | VIMIZIM | ERT | Mucopolysaccharidosis | Haematopoietic stem cell transplantation | LYSOSOMAL STORAGE DISORDERS | TANDEM MASS-SPECTROMETRY | ELOSULFASE ALPHA | Enzyme replacement therapy | Surgery | Elosulfase alfa | GENETICS & HEREDITY | SYNDROME MUCOPOLYSACCHARIDOSIS IVA | STEM-CELL TRANSPLANTATION | SPINAL-CORD COMPRESSION | HSCT | MORQUIO-BRAILSFORD SYNDROME | KERATAN SULFATE | Management guidelines | Anaesthetics | Genetic aspects | Research | Gene mutations | Analysis | Prevalence studies (Epidemiology) | N-Acetylgalactosamine | Spinal cord | Transplants & implants | Keratan sulfate | Stem cell transplantation | Lysosomes | Lysergide | Sleep disorders | Motivation | Throat surgery | Nose | Enzymes | Thorax | Management | Metabolism | Anesthetics | Medical screening | Patients | Pharynx | Hereditary diseases | Quality of life | Ostomy | Sleep | Scientific imaging | Mutation | N-Acetylgalactosamine-6-sulfatase | Mass spectrometry
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2. Full Text Recommendations for the management of MPS VI: Systematic evidence- and consensus-based guidance
by Akyol, Mehmet Umut and Alden, Tord D and Amartino, Hernan and Ashworth, Jane and Belani, Kumar and Berger, Kenneth I and Borgo, Andrea and Braunlin, Elizabeth and Eto, Yoshikatsu and Gold, Jeffrey I and Jester, Andrea and Jones, Simon A and Karsli, Cengiz and Mackenzie, William and Marinho, Diane Ruschel and McFadyen, Andrew and McGill, Jim and Mitchell, John J and Muenzer, Joseph and Okuyama, Torayuki and Orchard, Paul J and Stevens, Bob and Thomas, Sophie and Walker, Robert and Wynn, Robert and Giugliani, Roberto and Harmatz, Paul and Hendriksz, Christian and Scarpa, Maurizio and MPS Consensus Programme Steeri and MPS Consensus Programme Co-C and MPS Consensus Programme Steering Committee and MPS Consensus Programme Co-Chairs
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2019, Volume 14, Issue 1, pp. 118 - 21
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in... 
MPS VI | Enzyme replacement therapy | Galsulfase | ERT | Surgery | Maroteaux-Lamy syndrome | Mucopolysaccharidosis | Haematopoietic stem cell transplantation | HSCT | Anaesthetics | Management guidelines | MEDICINE, RESEARCH & EXPERIMENTAL | OBSTRUCTIVE SLEEP-APNEA | BONE-MARROW-TRANSPLANTATION | VALVULAR HEART-DISEASE | CARPAL-TUNNEL-SYNDROME | LYSOSOMAL STORAGE DISORDERS | ENZYME-REPLACEMENT THERAPY | MUCOPOLYSACCHARIDOSIS TYPE-VI | MAROTEAUX-LAMY-SYNDROME | GENETICS & HEREDITY | STEM-CELL TRANSPLANTATION | SPINAL-CORD COMPRESSION | Medical research | Care and treatment | Usage | Analysis | Stem cells | Practice guidelines (Medicine) | Medicine, Experimental | Transplantation | Heart | N-Acetylgalactosamine | Respiratory function | Transplants & implants | Stem cell transplantation | Cardiovascular disease | Hematopoietic stem cells | Sleep disorders | Motivation | Tumor necrosis factor-TNF | Carpal tunnel syndrome | Enzymes | Task forces | N-Acetylgalactosamine-4-sulfatase | Births | Management | Anesthetics | Patients | Hereditary diseases | Hemopoiesis | Quality of life | Ostomy | Sleep | Arylsulfatase | Clinical medicine | Mutation
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