Casa
niemann pick disease

Patient with Niemann-Pick disease type C: over 20 years' follow-up

Por um escritor misterioso

Descrição
We report a 37-year-old woman with Niemann-Pick disease type C (NPC) 1. At the age of 8 years, she presented slow running followed by both fingers dystonia at the age of 10 years. At the age of 16 years, she developed declined scholastic achievement. On her first visit at the age of 17 years, she showed dystonia, ataxic gait and vertical supranuclear gaze palsy. We suspected it was NPC. She presented atrophies in the frontal lobes, brainstem and cerebellum in a brain MRI. She presented hepatomegalies and splenomegalies in an abdominal CT. At the age of 26 years, she undertook perpetually tracheal fistula because of recurrent aspiration pneumonia. Diagnosis of NPC1 was made by filipin staining and existence of foamy cells in the bone marrow and NPC1 gene analysis. We obtained informed consent of genetic analysis. Miglustat therapy was started at the age of 32 years. Improvements in swallowing capacity and in muscle tonus were seen.
Patient with Niemann-Pick disease type C: over 20 years' follow-up
IJMS, Free Full-Text
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Niemann-Pick Disease - Types, Causes, Symptoms, Diagnosis & Treatment
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Effects of miglustat therapy on neurological disorder and survival
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Clinical disease characteristics of patients with Niemann-Pick
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Miglustat in Niemann-Pick disease type C patients: a review
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Evaluation of different suspicion indices in identifying patients
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Niemann-Pick disease type C Alzheimer Society of Canada
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Clinical disease characteristics of patients with Niemann-Pick
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Niemann–Pick disease type C1 (NPC1) is associated with early-onset
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Two-Year-Old Kamryn Living with Niemann-Pick Disease Type C (NPC
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Niemann-Pick Disease
Patient with Niemann-Pick disease type C: over 20 years' follow-up
Parents of twins with Niemann-Pick find a treatment
de por adulto (o preço varia de acordo com o tamanho do grupo)