Voice alterations in patients with Morquio A syndrome
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DOI: 10.1007/s13353-017-0421-6
Abstract: Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation… read more here.
Keywords: alterations patients; voice; morquio syndrome; voice alterations ... See more keywords
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100679
Abstract: Introduction Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the… read more here.
Keywords: replacement therapy; morquio syndrome; patients morquio; enzyme replacement ... See more keywords
Adult Morquio syndrome requiring occipito-thoracic fusion
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DOI: 10.1177/2309499020918424
Abstract: Morquio syndrome is a relatively rare entity that is often associated with atlantoaxial instability from early childhood due to odontoid dysplasia based on a mucopolysaccharoidal disorder. Here, we present the case of a 55-year-old male… read more here.
Keywords: morquio syndrome; requiring occipito; occipito thoracic; syndrome requiring ... See more keywords
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0633-1
Abstract: Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, and early mortality. Studies in Morquio A… read more here.
Keywords: min walk; morquio syndrome; morquio patients; review ... See more keywords
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series
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DOI: 10.1186/s13023-021-01761-0
Abstract: Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy… read more here.
Keywords: morquio syndrome; treatment; case series; initiation ... See more keywords
Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature
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DOI: 10.3390/diagnostics10020116
Abstract: 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 stature can facilitate… read more here.
Keywords: mps iva; morquio syndrome; study; modeling morquio ... See more keywords
Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene
Sign Up to like & getrecommendations! Published in 2022 at "Balkan Medical Journal"
DOI: 10.4274/balkanmedj.galenos.2022.2022-1-72
Abstract: A 21-month-old boy (Figure 1a; Figure 1b) presented to the surgery department with foot and spine deformity. He was born after a fullterm pregnancy with no complications. His parents were healthy and nonconsanguineous. Birth anthropometric… read more here.
Keywords: caused two; galns gene; two heterozygous; heterozygous mutations ... See more keywords