SciELO - Brasil - Niemann-Pick disease type C: a case series of
Por um escritor misterioso
Descrição
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease
![SciELO - Brasil - Niemann-Pick disease type C: a case series of](https://i1.rgstatic.net/publication/303716754_Visceral_symptoms_as_a_key_diagnostic_sign_for_the_early_infantile_form_of_Niemann-Pick_disease_type_C_in_a_Russian_patient_A_case_report/links/5fc46028299bf104cf93f4a9/largepreview.png)
PDF) Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: A case report
![SciELO - Brasil - Niemann-Pick disease type C: a case series of](https://www.researchgate.net/profile/Mercedes-Pineda/publication/305627249/figure/fig1/AS:391096132751389@1470255992845/Performance-assessment-sensitivity-and-specificity-plots-for-NP-C-cases-versus-NP-C_Q320.jpg)
PDF) A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
![SciELO - Brasil - Niemann-Pick disease type C: a case series of](https://www.frontiersin.org/files/Articles/773384/fmolb-08-773384-HTML/image_m/fmolb-08-773384-g001.jpg)
Frontiers Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review
![SciELO - Brasil - Niemann-Pick disease type C: a case series of](https://onlinelibrary.wiley.com/cms/asset/cb4188d2-a449-4117-93fc-397140fe7a12/jnc14895-fig-0003-m.jpg)
Niemann–Pick type C disease: cellular pathology and pharmacotherapy - Wheeler - 2020 - Journal of Neurochemistry - Wiley Online Library
Manifestacoes clinicas presentes na doenca de Niemann-Pick tipo c em diferentes faixas etarias: uma revisao da literatura/Clinical manifestations of Niemann-pick type C disease in different age groups: a literature review/Manifestaciones clinicas presentes
![SciELO - Brasil - Niemann-Pick disease type C: a case series of](https://minio.scielo.br/documentstore/1806-3756/ZNXH9sVypXn4jbvRs4grxKp/b8fe781371a7e8f9b34e81c01459f08da9f89a23.jpg)
SciELO - Brasil - Niemann-Pick disease type B: HRCT assessment of pulmonary involvement Niemann-Pick disease type B: HRCT assessment of pulmonary involvement
![SciELO - Brasil - Niemann-Pick disease type C: a case series of](https://www.researchgate.net/profile/Mercedes-Pineda/publication/305627249/figure/fig3/AS:391269206511618@1470297256468/Receiver-operator-characteristic-ROC-curve-analysis-ROC-AUC-analysis-for-both-the_Q320.jpg)
PDF) A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
![SciELO - Brasil - Niemann-Pick disease type C: a case series of](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fsrep41931/MediaObjects/41598_2017_Article_BFsrep41931_Fig1_HTML.jpg)
New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease
![SciELO - Brasil - Niemann-Pick disease type C: a case series of](https://www.researchgate.net/profile/Mercedes-Pineda/publication/305627249/figure/fig2/AS:391269206511617@1470297256397/The-early-onset-NP-C-SI-Symptoms-were-scored-based-on-the-strength-of-association-with-a_Q320.jpg)
PDF) A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
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