Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
نویسندگان
چکیده
Na Hee Lee, MD, Sung Yoon Cho, MD, Se Hyun Maeng, MD, Tae Yeon Jeon, MD, Young Bae Sohn, MD, PhD, Su Jin Kim, MD, PhD, Hyung-Doo Park, MD, PhD, Dong Kyu Jin, MD, PhD Departments of Pediatrics, Radiology & Center for Imaging Science, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Department of Medical Genetics, Ajou University School of Medicine, Suwon, Center of Pediatric Oncology, National Cancer Center, Goyang, Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Korea
منابع مشابه
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
PURPOSE Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic ...
متن کاملGenetic Assessment of Mucopolysaccharidosis Type IV and the First Pathological Mutation of c.313A>G in the Iranian Population
Aims Morquio syndrome is a mucopolysaccharidosis (type 4) that has autosomal recessive inheritance. Moreover, it is caused by defects in the two genes; GALNS (Murcio A) and GLB1 (Murcio B). The prevalence rate of this condition is estimated to be about 1 per 200000 live births globally. Besides, Middle Eastern cases shape the greatest ratio, due to higher rates of consanguineous marriages. The ...
متن کاملMuskoskeletal manifestations of mild form of mucopolysaccharidosis iva - a clinical case
Introduction Mucopolysaccharidosis IVA (MPS IVA) is a rare inherited metabolic disorder caused by galactosamine-6-sulfate sulfatase (GALNS) enzyme deficiency that leads to progressive lysosomal accumulation of glycosaminoglycans (GAGs). MPS IVA has a variable age of onset and variable severity. Clinical presentation is heterogeneous, and some cases are only mildly affected. Key clinical feature...
متن کاملMucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.
Mucopolysaccharidosis type IVA is a rare lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 6-sulfatase. Studies usually focus on skeletal abnormalities and their consequences. This study explores the neurological manifestations in a cohort of mucopolysaccharidosis type IVA patients, with a detailed focus on brain and spinal magnetic resonance imaging (MRI) findings. We p...
متن کاملBisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisystemic involvement and have a short life expectancy. Attenuated forms with clinical features limited to minor skeletal abnormalities and short stature...
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عنوان ژورنال:
دوره 56 شماره
صفحات -
تاریخ انتشار 2013