SÍNDROME DE MORQUIO (MUCOPOLISACARIDOSIS TIPO IV) Y EMBARAZO
Revista Chilena de Obstetricia y Ginecología, 2005 Se presenta el caso de una paciente embarazada, portadora de Síndrome de Morquio (Mucopolisacaridosis tipo IV), que evoluciona con polihidroamnios y disnea.
Hugo Salinas P. +6 more
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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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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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Mucopolysaccharidoses type IV A (Morquio syndrome): A case series of three siblings
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012 Mucopolysaccharidoses (MPS) are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (mucopolysaccharides).
P Rekka +3 more
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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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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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Revista de la Facultad de Ciencias de la Salud, 2010 We present a case of a Morquio syndrome, it is a disease transmitted by inheritance autosomic recessive, is systemic disease, mainly affects cartilage, clinically there is deficiency of Galactose-6-sulfatase and beta-galactosidase enzymes, clinically is ...
Ivonne Alejandra Meza +1 more
doaj +2 more sources
Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS [PDF]
, 2014 Background - Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints.
Chan, Mercedes +7 more
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گزارش مورد: گزارش اداره ی بيهوشی جهت انجام هيستروتومی در يک موردسندرم مورکيو [PDF]
, 2011 سندرم موركيو يك بيماري ارثي اتوزوم مغلوب از گروه موكوپليساكاريدوز هاست كه از نظر باليني با ديسپلازي شديد اسكلتي و با بهرههوشي نرمال مشخص ميشود. ارتشاح كراتان سولفات در نسوج مختلف رخ ميدهد و با پيشرفت بيماري ميتواند باعث درگيري نسج همبند قرنيه و راههاي ...
اسداله, سارا +4 more
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