Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]
, 2016 BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I +7 more
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Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. [PDF]
, 2015 Mucopolysaccharidosis IVA is an autosomal recessive condition caused by mutations in the GALNS gene, which encodes N-acetylgalactosamine-6-sulfatase, also called galactosamine-6-sulfatase (GALNS).
Alden, Tord D. +10 more
core +1 more source
Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature
Diagnostics, 2020 Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body
Agnieszka Różdżyńska-Świątkowska +3 more
doaj +1 more source
Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. [PDF]
, 2019 This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology ...
Bernasconi S +10 more
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Morquio’s Syndrome: A Case Report of Two Siblings
Case Reports in Dentistry, 2017 Morquio syndrome or MPS IVA is a rare type of lysosomal storage disease associated with highly specific dental abnormalities. We present two siblings with enamel hypoplasia and skeletal abnormalities.
Sathish Muthukumar Ramalingam +4 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2017 Enzyme replacement therapy (ERT) with elosulfase alfa is the only approved therapy in Japan for patients with Morquio A syndrome, a lysosomal storage disorder inherited in an autosomal recessive fashion.
Misako Hiramatsu, Kimitoshi Nakamura
doaj +1 more source
Respiratory and sleep disorders in mucopolysaccharidosis [PDF]
, 2012 MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues.
Ciarán McArdle +9 more
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Case Reports in Dentistry, 2020 Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans.
Andrea Gómez-González +4 more
doaj +1 more source
Re-Seeing The Mighty: Critically Examining One Film\u27s Representations of Disability in the English Classroom [PDF]
, 2010 Films portraying characters with disabilities are often shown in the English classroom. Films such as Of Mice and Men, Simon Birch, To Kill a Mockingbird, The Hunchback of Notre Dame, The Glass Menagerie, Moby Dick, Gattaca, and A ...
Arndt, Katrina +2 more
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Perinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
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