Results 101 to 110 of about 1,770 (187)

Morquio syndrome: a report of a rare disease and literature review

open access: yes, 2019
Morquio syndrome is a rare multisystem disease that leads to severe functional impairment. Serious morbidities and potentially fatal conditions may be present following affectation of various organs. Musculoskeletal abnormalities, including short stature,
Dim, Edwin M.   +3 more
core   +1 more source

Natural history of Morquio A patient with tracheal obstruction from birth to death

open access: yesMolecular Genetics and Metabolism Reports, 2018
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan ...
Caitlin Doherty   +6 more
doaj   +1 more source

Síndrome de Morquio, una afección infrecuente

open access: yes, 2020
Introduction: Morquio syndrome is a rare autosomal recessive hereditary disease, characterized by the presence of a carbohydrate metabolism disorder, generating a decrease in the quality of life.
Crespo Vallejo, Deyssy Viviana   +2 more
core   +1 more source

Best abstracts from the APAGBI Annual Scientific Meeting 2024

open access: yes
Pediatric Anesthesia, Volume 35, Issue 2, Page 185-191, February 2025.
wiley   +1 more source

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome. [PDF]

open access: yesDrug Des Devel Ther, 2022
Lee CL   +7 more
europepmc   +1 more source

Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene [PDF]

open access: yesBalkan Med J, 2022
Pajic MD   +4 more
europepmc   +1 more source

Morquio syndrome (MPV IV)-A case report

open access: yesIndian Journal of Ophthalmology, 1991
A child, of normal intelligence, belonging to a nonconsanguineous marriage was diagnosed as MPS type IV the so called Morquio syndrome. Despite mild corneal cloudiness no other ophthalmological abnormalities were observed.
Rekhi Gulbir
doaj  

OCCIPITO-ATLANTO-AXIAL FUSION IN MORQUIO-BRAILSFORD SYNDROME

open access: yes, 1996
In 17 patients (eleven males, six females) with Morquio-Brailsford syndrome (mucopolysaccharidosis IV) we have used onlay femoral and tibial autografts placed posteriorly and secured to the laminae of C1 and C2 to obtain satisfactory occipito-C1/C2 ...
H. A. Crockard   +3 more
core   +1 more source

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