Search Results

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.

• Authors : Tao, Chaoxin¹ (AUTHOR); Zhao, Min² (AUTHOR); Zhang, Xiaohui¹ (AUTHOR)

Subjects: *NIEMANN-Pick diseases; *LITERATURE reviews; *LIPIDOSES

• Source: BMC Infectious Diseases. 1/30/2024, Vol. 24 Issue 1, p1-8. 8p.

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SUCCESSFUL PREGNANCY OUTCOME IN PATIENT WITH NIEMANN-PICK DISEASE TYPE B AND REVIEW OF THE LITERATURE.

• Authors : Turgut, E.¹ ; Taner, Z.¹; Bayram, M.¹

Subjects: *PREGNANCY outcomes; *NIEMANN-Pick diseases; *LITERATURE reviews

• Source: Acta Endocrinologica (1841-0987). Apr-Jun2023, Vol. 19 Issue 2, p108-111. 4p.

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Acid sphingomyelinase deficiency in France: a retrospective survival study.

• Authors : Mauhin, Wladimir¹ (AUTHOR); Guffon, Nathalie² (AUTHOR); Vanier, Marie T.³ (AUTHOR)

Subjects: *NIEMANN-Pick diseases; *SPHINGOMYELINASE; *SURVIVAL rateFRANCE

• Source: Orphanet Journal of Rare Diseases. 8/5/2024, Vol. 19 Issue 1, p1-12. 12p.

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Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches.

• Authors : Hosseini, Kamran^1,2 (AUTHOR) ; Fallahi, Jafar² (AUTHOR); Razban, Vahid^2,3 (AUTHOR)

Subjects: *NIEMANN-Pick diseases; *LYSOSOMAL storage diseases; *THERAPEUTICS

• Source: Cell Biochemistry & Function. Jun2024, Vol. 42 Issue 4, p1-24. 24p.

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Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.

• Authors : Farhat, Nicole Y.¹ (AUTHOR) ; Alexander, Derek¹ (AUTHOR) ; McKee, Kyli¹ (AUTHOR)

Subjects: *NIEMANN-Pick diseases; *LYSOSOMAL storage diseases; *GENE expression

• Source: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 8, p4217. 14p.

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Findings from Eunice Kennedy Shriver National Institute of Child Health and Human Development in the Area of Niemann-Pick Diseases and Conditions Described (Maternal Immune Activation Modifies the Course of Niemann-pick Disease, Type C1 In a ...)

• Source: Women's Health Weekly. 2020, pages. 880

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Eunice Kennedy Shriver National Institute of Child Health and Human Development Researchers Publish Findings in Niemann-Pick Diseases and Conditions (Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1).

• Source: Health & Medicine Week. 2023, pages. 1390

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Niemann–Pick disease type C1 presenting with psychosis in an adolescent male.

• Authors : Sandu, Sabine; Jackowski-Dohrmann, Sabine; Ladner, Axel

Subjects: NIEMANN-Pick diseases; PSYCHOSES in adolescence; TEENAGE boys

• Source: European Child & Adolescent Psychiatry. Sep2009, Vol. 18 Issue 9, p583-585. 3p.

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The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review.

• Authors : Tirelli, Claudio¹ (AUTHOR) ; Rondinone, Ornella² (AUTHOR) ; Italia, Marta¹ (AUTHOR)

Subjects: *NIEMANN-Pick diseases; *LUNGS; *LYSOSOMAL storage diseases

• Source: Biomolecules (2218-273X). Feb2024, Vol. 14 Issue 2, p211. 21p.

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A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency.

• Authors : Bhoyrul, Bevin¹ (AUTHOR) ; Wright, David¹ (AUTHOR); Heptinstall, Lesley² (AUTHOR)

Subjects: *ANGIOKERATOMA corporis diffusum; *NIEMANN-Pick diseases; *SKELETAL abnormalities

• Source: Pediatric Dermatology. Nov2019, Vol. 36 Issue 6, p906-908. 3p. 2 Diagrams.

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