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n. proteinosis, acumulación en exceso de proteínas en los tejidos.
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References in periodicals archive ?
Lipoid proteinosis (LP) is a very rare autosomal recessive genodermatoses whose true incidence is not known.
Lipoid proteinosis is also known as hyalinosis cutis et mucosae, Urbach-Wiethe disease.
Fujimoto, "A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis," British Journal of Dermatology, vol.
Lipoid proteinosis (LP, OMIM 247100), also known as Urbach-Wiethe disease or lipoidosis cutis et mucosae, was first described by Urbach and Wiethe [sup][1] in 1929.
Lipoid proteinosis (LP), also known as Hyalinosis cutis et mucosae or Urbach-Wiethe disease, is an uncommon, autosomal, recessively inherited disorder.
Notably, couple A has also been referred to as the founder couple for HD, lipoid proteinosis, PXE and schizophrenia in the Afrikaner population.
Lipoid proteinosis is a rare autosomal recessive disorder with variable phenotype caused by defect in extracellular matrix protein-1 and is characterized by deposition of periodic acid- Schiff-positive diastase resistant material in skin mucous membrane and internal organs.
Lipoid proteinosis (LP), also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal-recessive disease, with less than 400 cases reported to date [1-3].
Mcgrath, "The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1, " Experimental Dermatology, vol.
Winchester syndrome (OMIM 277950), systemic fibromatosis (OMIM 228550), stiff skin syndrome (OMIM 184900), lipoid proteinosis (OMIM 247100), and storage diseases including mucopolysacharoses, sphingolipidoses and mucilipidoses [Osterby et al., 2002; Zolkpi et al., 2003; Lim et al., 2005; Yayli et al., 2006; Al-Mayouf 2007; ,Al-Malik et al., 2007; Shieh et al., 2008; Al-Mubarak et al., 2009].
Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae, was first described by a Viennese dermatologist and otorhinolaryngologist, Urbach and Wiethe, in 1929 (1).
Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal-recessive anomaly that primarily affects the skin and the mucosa of the upper aerodigestive tract in children.