2013
DOI: 10.1016/j.ymgme.2013.04.009
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Pathogenesis of Morquio A syndrome: An autopsied case reveals systemic storage disorder

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Cited by 76 publications
(100 citation statements)
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References 15 publications
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“…The most evident clinical features of this syndrome are orthopedic type (14), nonetheless in only one patient the diagnosis was suspected due a non-skeletal feature (chronic bronchitis).…”
Section: Definitive Diagnosismentioning
confidence: 99%
See 1 more Smart Citation
“…The most evident clinical features of this syndrome are orthopedic type (14), nonetheless in only one patient the diagnosis was suspected due a non-skeletal feature (chronic bronchitis).…”
Section: Definitive Diagnosismentioning
confidence: 99%
“…Early onset findings are kyphosis, scoliosis, growth retardation and altered gait (4,14). The vast majority of papers detail clinical features but only few mention the age of onset.…”
Section: Introductionmentioning
confidence: 99%
“…Due to a deficiency in the glycosaminoglycan (GAG)‐degrading enzyme N‐acetylgalactosamine‐6‐sulfatase (GALNS), undegraded and partially degraded keratan sulfate (KS) and chondroitin‐6‐sulfate accumulate in multiple tissues and organs of Morquio A patients [Yasuda et al, 2013]. This accumulation causes cellular and organ dysfunction leading to the progressive development of an array of clinical manifestations.…”
Section: Introductionmentioning
confidence: 99%
“…Patients with a classic (severe) form of MPS IVA have a unique systemic skeletal dysplasia including short-trunk dwarfism, kyphoscoliosis, coxa valga, odontoid hypoplasia, abnormal gait, joint mobility problems, restriction of chest wall movement, and a life span of 20-30 years if an appropriate orthopedic intervention is unavailable. Patients with an attenuated form have a milder skeletal involvement, and most have normal life span (Dũng et al 2013;Yasuda et al 2013;Tomatsu et al 2011Tomatsu et al , 2012aTomatsu et al , 2013aNorthover et al 1996;Montaño et al 2007Montaño et al , 2008Suzuki et al 2001;Hendriksz et al 2013;M€ ollmann et al 2013;Harmatz et al 2013). Patients with MPS IVB show a milder phenotype of skeletal dysplasia than patients with the severe form of MPS IVA.…”
Section: Introductionmentioning
confidence: 99%