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- Hurler–Scheie syndrome is a genetic disorder caused by the buildup of glycosaminoglycans (GAGs) in various organ tissues. It is a cutaneous condition, also characterized by mild mental retardation and corneal clouding. Respiratory problems, sleep apnea, and heart disease may develop in adolescence. Hurler–Scheie syndrome is classified as a lysosomal storage disease. Patients with Hurler–Scheie syndrome lack the ability to break down GAGs in their lysosomes due a deficiency of the enzyme iduronidase. All forms of mucopolysaccharidosis type I (MPS I) are a spectrum of the same disease. Hurler-Sheie is the subtype of MPS I with intermediate severity. Hurler syndrome is the most severe form, while Scheie syndrome is the least severe form. Some clinicians consider the differences between Hurler, Hurler-Scheie, and Scheie syndromes to be arbitrary. Instead, they classify these patients as having "severe", "intermediate", or "attenuated" MPS I. (en)
- La malattia di Hurler-Scheie (detta anche Mucopolisaccaridosi I HS, oppure MPS I HS) è una malattia da accumulo lisosomiale (una forma di mucopolisaccaridosi), causata dal mancato metabolismo dell'individuo malato dell', uno . Il fatto che abbia il nome sia della malattia di Hurler, sia di quella di Scheie, non significa che gli individui con la Hurler-Scheie possiedano in contemporanea entrambe le malattie, ma che sono affetti da un'unica patologia a sé stante, il cui decorso clinico contiene elementi affini ad entrambe le malattie citate. (it)
- Синдро́м Гу́рлер — Шейе́ (мукополисахаридоз-I H/S, англ. MPS-I H/S) — наследственное заболевание из группы мукополисахаридозов, относящихся к лизосомным болезням накопления. Характеризуется недостаточностью альфа-L-идуронидазы — фермента лизосом, участвующего в катаболизме кислых мукополисахаридов, которые составляют основу межклеточного вещества соединительной ткани. Заболевание редкое, проявляется в детском возрасте. Синдром Гурлер — Шейе является одним из представителей группы мукополисахаридозов, объединённых термином гаргоилизм. (ru)
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- 3173 (xsd:nonNegativeInteger)
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- Structure of dermatan sulfate, one of the molecules that accumulates in the lysosomes of MPS I patients (en)
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- Deficiency of the alpha-L iduronidase enzyme (en)
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- Other forms of MPS I; Hunter syndrome; other mucopolysaccharidoses (en)
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- Hurler-Scheie syndrome (en)
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- Mucopolysaccharidosis type I H-S (en)
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- Enzyme replacement therapy with iduronidase; surgery (en)
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- La malattia di Hurler-Scheie (detta anche Mucopolisaccaridosi I HS, oppure MPS I HS) è una malattia da accumulo lisosomiale (una forma di mucopolisaccaridosi), causata dal mancato metabolismo dell'individuo malato dell', uno . Il fatto che abbia il nome sia della malattia di Hurler, sia di quella di Scheie, non significa che gli individui con la Hurler-Scheie possiedano in contemporanea entrambe le malattie, ma che sono affetti da un'unica patologia a sé stante, il cui decorso clinico contiene elementi affini ad entrambe le malattie citate. (it)
- Синдро́м Гу́рлер — Шейе́ (мукополисахаридоз-I H/S, англ. MPS-I H/S) — наследственное заболевание из группы мукополисахаридозов, относящихся к лизосомным болезням накопления. Характеризуется недостаточностью альфа-L-идуронидазы — фермента лизосом, участвующего в катаболизме кислых мукополисахаридов, которые составляют основу межклеточного вещества соединительной ткани. Заболевание редкое, проявляется в детском возрасте. Синдром Гурлер — Шейе является одним из представителей группы мукополисахаридозов, объединённых термином гаргоилизм. (ru)
- Hurler–Scheie syndrome is a genetic disorder caused by the buildup of glycosaminoglycans (GAGs) in various organ tissues. It is a cutaneous condition, also characterized by mild mental retardation and corneal clouding. Respiratory problems, sleep apnea, and heart disease may develop in adolescence. Hurler–Scheie syndrome is classified as a lysosomal storage disease. Patients with Hurler–Scheie syndrome lack the ability to break down GAGs in their lysosomes due a deficiency of the enzyme iduronidase. (en)
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- Malattia di Hurler-Scheie (it)
- Hurler–Scheie syndrome (en)
- Синдром Гурлер — Шейе (ru)
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- Hurler-Scheie syndrome (en)
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