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Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
Published 2019-01-01“…Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. …”
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Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B
Published 2018-01-01“…Background. Niemann-Pick Disease Type B (NPD B) is a rare lysosomal storage disorder resulting from an inherited deficiency of acid sphingomyelinase activity. …”
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Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report
Published 2025-03-01Subjects: “…Niemann-Pick disease…”
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Stress and anxiety among caregivers of adult patients with Niemann-Pick Type C disease
Published 2024-12-01Subjects: Get full text
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Instationary metabolic flux analysis reveals that NPC1 inhibition increases glycolysis and decreases mitochondrial metabolism in brain microvascular endothelial cells
Published 2025-01-01Subjects: “…Niemann-pick disease type C…”
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Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency
Published 2025-01-01Subjects: Get full text
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Two Forms of Palilalia: A Clinicoanatomical Study
Published 1992-01-01“…“Atonic, homophonic, autoecholalic palilalia” is mainly seen in Pick's disease, and is not affected by external interruption.…”
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Maternal Mortality: 10 Year Experience of a Tertiary Center in Turkey
Published 2020-01-01“…Maternal mortality causes were cardiopulmonary failure secondary to veno-occlusive disease, septic shock secondary to osteosarcoma, pulmonary thromboembolism secondary to metastatic breast cancer, septic shock secondary to cholecystitis, and postpartum hemorrhage secondary to Niemann–Pick disease. Four out of five cases were evaluated as indirect maternal mortality cases. …”
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Deficiency in NPC2 results in disruption of mitochondria-late endosome/lysosomes contact sites and endo-lysosomal lipid dyshomeostasis
Published 2025-01-01“…Abstract Dysfunction of the endo-lysosomal intracellular Cholesterol transporter 2 protein (NPC2) leads to the onset of Niemann–Pick Disease Type C (NPC), a lysosomal storage disorder. …”
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NPC1 controls TGFBR1 stability in a cholesterol transport-independent manner and promotes hepatocellular carcinoma progression
Published 2025-01-01“…Abstract Niemann-Pick disease type C protein 1 (NPC1), classically associated with cholesterol transport and viral entry, has an emerging role in cancer biology. …”
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Nonfluent/Agrammatic PPA with In-Vivo Cortical Amyloidosis and Pick’s Disease Pathology
Published 2013-01-01“…Three years later (11 years from first symptom), post-mortem histopathological evaluation revealed Pick's disease, with severe degeneration of left IFG, mid-insula, and precentral gyrus. …”
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