Sanfilippo syndrome

Sanfilippo syndrome
A hereditary lysosomal storage disorder with onset between the ages of two and six. Sanfilippo syndrome is characterized by accumulation of heparin sulfate in the central nervous system and other tissue. It is an autosomal recessive disorder. Also known as mucopolysaccharidosis Type III (MPS III).

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San·fi·lip·po syndrome (san-fĭ-lipґo) [Sylvester J. Sanfilippo, American pediatrician, 20th century] see under syndrome.

Medical dictionary. 2011.

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  • Sanfilippo syndrome — Classification and external resources ICD 10 E76.2 ICD 9 277.5 …   Wikipedia

  • Sanfilippo — Maladie de Sanfilippo La maladie de Sanfillipo ou syndrome de Sanfillipo est une mucopolysaccharidose qui est due à une déficience en une enzyme lysosomiale, la héparane N sulfatase. Cette enzyme réalise une étape cruciale du catabolisme du… …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Sanfilippo — Sylvester J., 20th century U.S. pediatrician. See S. syndrome …   Medical dictionary

  • Síndrome de Sanfilippo — Contenido 1 Definición 2 Historia 3 Epidemiología 4 Manifestaciones Clínicas 5 …   Wikipedia Español

  • Scheie syndrome — (also known as MPS V) ) is less severe version of Hurler s disease. It is a condition characterized by corneal clouding, facial dysmorphism, and normal lifespan [1] but unlike Hurler s, disease has normal intellect and .[2] See also Sanfilippo… …   Wikipedia

  • Sanfilippo's syndrome — ▪ pathology also called  Mucopolysaccharidosis Iii,         rare hereditary (autosomal recessive) metabolic disease characterized by severe mental retardation. There are three varieties, each caused by a defect in a different enzyme involved in… …   Universalium

  • Sanfilippo's syndrome — …   Useful english dictionary

  • Maladie de Sanfilippo — La maladie de Sanfillipo ou syndrome de Sanfillipo est une mucopolysaccharidose qui est due à une déficience en une enzyme lysosomiale, la héparane N sulfatase. Cette enzyme réalise une étape cruciale du catabolisme du sulfate d héparane, un… …   Wikipédia en Français

  • Maladie De Sanfilippo — La maladie de Sanfillipo ou syndrome de Sanfillipo est une mucopolysaccharidose qui est due à une déficience en une enzyme lysosomiale, la héparane N sulfatase. Cette enzyme réalise une étape cruciale du catabolisme du sulfate d héparane, un… …   Wikipédia en Français

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