Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
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Last updated 16 fevereiro 2025
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The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale OneFile: Health and Medicine
mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts
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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - ScienceDirect
![Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine](https://i1.rgstatic.net/publication/373071994_Understanding_the_phenotypic_variability_in_Niemann-Pick_disease_type_C_NPC_a_need_for_precision_medicine/links/64d6910825837316ee03a395/largepreview.png)
PDF) Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
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The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity. - Document - Gale Academic OneFile
![Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine](https://www.thelancet.com/cms/attachment/f63d2b4b-4669-40bb-afed-1133b533fb3e/gr4_lrg.jpg)
Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease - eBioMedicine
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Full article: Psychiatric and neurological symptoms in patients with Niemann -Pick disease type C (NP-C): Findings from the International NPC Registry
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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - ScienceDirect
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High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
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