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1.595.663  Articles
1 of 159.567 pages  |  10  records  |  more records»
A doença de Niemann-Pick (DNP) é um distúrbio raro, de armazenamentolisossômico ou de acumulação. É considera uma doença grave e possui três tipos principais: A, B e C. Esse estudo visa analisar se a apresentação de manifestações clínicas em determinada f... see more

INTRODUCCIÓN: la enfermedad de Niemann Pick tipo A es una enfermedad hereditaria de depósito lisosomal, debida a un déficit de la enzima esfingomielinasa ácida, lo que da lugar a la acumulación de esfingomielina en las células del sistema reticuloendoteli... see more

INTRODUCCIÓN: la enfermedad de Niemann Pick tipo A es una enfermedad hereditaria de depósito lisosomal, debida a un déficit de la enzima esfingomielinasa ácida, lo que da lugar a la acumulación de esfingomielina en las células del sistema reticuloendoteli... see more

Objective: Genetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients.Methods: We sequenced the SMPD1 gene including its all coding and flanking regions in seven unrelated sporadic patients suffering from Niemann-... see more

Niemann-Pick (NP) disease is a distinct disorder with specific clinical and morphological manifestations. We report a 2-year-oldgirl who presented with normal development, acute onset of pallor, lethargy, and massive splenomegaly, which made us to think o... see more

 BACKGROUNDNiemann-Pick disease (NPD) types A result from the deficient activity of sphingomyelinase. NPD type A is characterized by early-onset, progressive neurodegenerative course; systemic disease manifestations, including massive hepatosplenomeg... see more

INTRODUÇÃO: A dermatite factícia é uma condição em que lesões cutâneas são autoprovocadas por diferentes meios e mecanismos, possivelmente resultado de uma perturbação psiquiátrica, com o intuito ou não de receber alguma recompensa secundária. As lesões c... see more

The rare, often neglected, and incurable Niemann Pick Type C (NPC) disease is an ailment that can occur in any community around the world, and a large portion of the patients affected is relatively young. The debilitating progressive neurodegeneration is ... see more

[first paragraph of article]Absorption of both dietary cholesterol and cholesterol cleared from the liver through biliary secretion contributes substantially to tight control of cholesterol homeostasis. This process is mediated by a specific transporter –... see more

1 of 159.567 pages  |  10  records  |  more records»