Enfermedad de Niemann-Pick en biopsias hepáticas

Niemann-Pick C1

So what does NPC1 really do? This is the key question. NPC1 shares significant structural homology with the resistance–nodulation–division (RND) family of permeases, members of which transport a number of substrates including heavy metals and lipids. Like its prokaryotic counterparts, NPC1 appears to transport fatty acids, but has not yet been shown to transport cholesterol. It has been suggest...

Niemann-Pick disease.

doi:10.5152/tjh.2011.15 The peripheral blood smear is an easy, inexpensive, and very useful diagnostic method. Although some think that it has lost its importance following the development of new automated complete blood counts, the peripheral blood smear should remain a primary diagnostic tool for clinicians, especially pediatricians. Peripheral blood smears aid clinicians in choosing the appr...

Niemann-Pick diseases.

The Niemann-Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann-Pick disease (ASM-deficient NPD) resulting from mutations in the SMPD1 gene and encompassing type A and type B as well as intermediate forms; (2) Niemann-Pick disease type C (NP-C) including also type D, resulting from mutations in either the NPC1 or the NPC2 gene. Both Niemann-...

Niemann-Pick Disease

In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice [5], nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of...

Evaluación De La Gestión De La Enfermedad De Insomnio En Farmacias Comunitarias a Través De Visitas Simuladas En Pakistán