Surgical Treatment of Ledderhose Disease in Patient with Mucopolysaccharidosis Type I (Hurler-Sheie)
نویسندگان
چکیده
منابع مشابه
Hurler syndrome (Mucopolysaccharidosis type I).
To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...
متن کاملOpen issues in Mucopolysaccharidosis type I-Hurler
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cel...
متن کاملProgression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler.
BACKGROUND Enzyme replacement therapy (ERT) has been increasingly used as an interim treatment in severe mucopolysaccharidosis type I (MPSI)/Hurler patients prior to hematopoietic stem cell transplantation (HSCT). METHODS We present the outcome of a patient with MPSI/Hurler after 14 months of ERT prior to HSCT. RESULTS Urinary glucosaminoglycan excretion decreased by 70% after one month of ...
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چکیده ندارد.
15 صفحه اولMucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters
Mucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical deformities and developmental anomalies. Part of a group of clinically progressive disorders, it is caused by the deficiency of the lysosomal enzyme, α-L -iduronidase, which results in intralysosomal accumulation of dermatan sulfate and heparan sulfate and in turn causes cell dysfunction. Two sisters, one 11 ...
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ژورنال
عنوان ژورنال: N.N. Priorov Journal of Traumatology and Orthopedics
سال: 2015
ISSN: 2658-6738,0869-8678
DOI: 10.17816/vto201522181-83