Niemannpick np es una enfermedad lisosomal transmitida por herencia. Enfermedad lisosomal perteneciente a las esfingolipidosis junto con gaucher, fabry 2. This article exposes a neuropsychological profile of the niemanpick desease type c, suffered by a nine years old male patient. From neonatal cholestasis to neurological degeneration. Niemannpick disease genes and disease ncbi bookshelf. Only comments seeking to improve the quality and accuracy of information on the orphanet website are accepted. Later, in the 1920s, luddwick pick studied tissues after the death of such children and provided evidence of a new disorder. Niemannpick np disease, miglustat, clinical trial, treatment. Niemannpick disease in 1914, german pediatrician albert niemann described a young child with brain and nervous system impairment.
Recommendations for the diagnosis and management of niemannpick disease type c. Check out our entire database and interactive tools to learn more about conditions, procedures, and gain insight into your health risks. Treatment of a child diagnosed with niemannpick disease type c with miglustat. Recently, the major locus responsible for niemannpick type c np c was cloned from chromosome 18, and found to be similar to proteins that play a role in cholesterol homeostasis. Niemann pick disease type a and b are clinically but also enzymatically heterogeneous. Jan 31, 2020 the data extracted from the clinical trials were. Mar, 2019 recommendations on the diagnosis and management of niemannpick disease type c. Nuria garatachea 1 4 5 find articles by nuria garatachea. Usually, cellular cholesterol is imported into lysosomesbags of enzymes in the cellfor processing, after which it is released.
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