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A white girl, born of nonconsanguineous parents at term by spontaneous vaginal delivery, developed neonatal hepatitis with jaundice at 2 months. Jaund

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Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease

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Niemann–Pick Disease Type C: Induced Pluripotent Stem Cell–Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy - Daozhan Yu, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan

Comparative Hippocampal Proteome and Phosphoproteome in a Niemann–Pick, Type C1 Mouse Model Reveal Insights into Disease Mechanisms

IJMS, Free Full-Text

IJMS, Free Full-Text

Nanoreporter Identifies Lysosomal Storage Disease Lipid Accumulation Intracranially

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TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease

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