Results 11 to 20 of about 3,016 (187)

Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome

Case Reports in Pediatrics, 2023
Introduction. The primary cause of death in Morquio A syndrome (mucopolysaccharidosis (MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic multilevel airway tortuosity, buckling, and obstruction.
Claire Frauenfelder, Elizabeth Maughan, Johnny Kenth, Reema Nandi, Simon Jones, Robert Walker, Bill Walsh, Nagarajan Muthialu, Iain Bruce, Richard Hewitt, Colin Butler   +10 more
doaj   +2 more sources

Heliox in the management of respiratory failure in a Morquio A syndrome patient with trachea narrowing [PDF]

Respiratory Medicine Case Reports
Morquio A Syndrome is a mucopolysaccharide deposition disease where patients can develop respiratory failure due to airway narrowing by polysaccharide deposition, anatomical distortion and compression of the airway.
Minghan Shi, Birubi Biman
doaj   +2 more sources

A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance [PDF]

Case Reports in Medicine, 2012
We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase.
Annalisa Di Cesare, Alessandra Di Cagno, Stefano Moffa, Paolucci Teresa, Innocenzi Luca, Arrigo Giombini   +5 more
doaj   +2 more sources

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome [PDF]

Molecular Genetics and Metabolism Reports
Background: Morquio A syndrome is associated with progressive loss of ambulatory capacity. The impact of elosulfase alfa enzyme replacement therapy (ERT), the approved treatment for Morquio A, remains understudied in non-ambulatory patients.
Carolina F.M. de Souza, Barbara K. Burton, Philippe M. Campeau, Roberto Giugliani, Nathalie Guffon, Christina Lampe, Nicole Muschol, Serap Sivri, Martha Solano, Karolina M. Stepien   +9 more
doaj   +2 more sources

Psychological health in adults with morquio syndrome. [PDF]

JIMD Rep, 2015
Mucopolysaccharidosis type IV (MPSIV), also known as Morquio syndrome, is a progressive genetic condition which predominantly affects skeletal development. Research thus far has focused on physical manifestations, with little attention to psychological characteristics.
Ali N, Cagle S.
europepmc   +4 more sources

Morquio syndrome. Case report

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, Jaime Álvarez-Soler   +1 more
doaj   +4 more sources

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report [PDF]

Radiology Case Reports
Mucopolysaccharidoses (MPS) are lysosomal storage disorders resulting from deficiencies in specific enzymes (lysosomal hydrolases), leading to the accumulation of excessive mucopolysaccharides (glycosaminoglycan’s, GAGs).
Muluken Yifru Gebresilassie, MD, Abdudin Heru Mehammed, MD, Misganaw Yigletie Damtie, MD, Hawi Dida Midekso, MD, Natnael Alemu Bezabih, MD, Michael Teklehaimanot Abera, MD, Atsede Birhanu Worku, MD   +6 more
doaj   +2 more sources

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis

JMIR Research Protocols
BackgroundMucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase ...
Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa   +5 more
doaj   +2 more sources

Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

Molecular Genetics and Metabolism Reports, 2022
Mucopolysaccharidosis IVA or Morquio A syndrome is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency. A diagnosis can be provided by the identification of reduced N-acetylgalactosamine-6-sulfatase activity as well ...
Kathryn DeLong, Annette Feigenbaum, Laura Pollard, Andrew Lay, Timothy Wood   +4 more
doaj   +1 more source

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +2 more sources