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n. proteinosis, acumulación en exceso de proteínas en los tejidos.
References in periodicals archive ?
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.
INTRODUCTION: Lipoid proteinosis / URBACH WIETHE DISEASE is a rare metabolic disease of skin inherited by autosomal recessive pattern.
8] With regard to lipoid proteinosis, a study conducted in the Namaqualand region of SA proposed that a brother and his sister who were born early in the 18th century are the common ancestors of present-day lipoid proteinosis patients.
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.
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.
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.
A British-led team of international researchers showed how mutations in a gene led to the development of lipoid proteinosis, a skin disorder affecting hundreds of families throughout the world, especially common in the northern Cape region of South Africa.
INTRODUCTION: Lipoid proteinosis, also known as Urbach-Wie the disease is a very rare, autosomal recessive disorder, characterized by infiltration of hyaline material into the skin, oral cavity, larynx and internal organs.
Other research topics included specifically South African subjects, such as reconstructing the history of preliterate peoples of the subcontinent employing blood groups and protein characteristics, oculocutaneous albinism in the black population, TSD in Jewish people, pentosuria, cystic fibrosis, Fanconi's anaemia, fragile X syndrome, the Y chromosome, mitochondrial DNA, haemoglobin variation (haemoglobinopathies) and disorders in the black and Indian populations, keratolytic winter erythema, lipoid proteinosis, intellectual disability, fetal alcohol syndrome, and other rarer conditions.
Two other diseases of interest as differential diagnoses of vocal fold deposits are amyloidosis and lipoid proteinosis (Urbach-Wiethe's disease):