Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report

Authors: Eyasu Wakjira Korsa, MD, Samuel Sisay Hailu, MD, Hewan Asfaw, MD, Hanna Damtew, MD, Daniel Zewdneh Solomon, MD

Source: Radiology Case Reports, Vol 20, Iss 3, Pp 1456-1460 (2025)

Subject Terms: Niemann-Pick disease, Lysosomal storage disease, Foam cells, Acid sphingomyelinase deficiency, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324012901; https://doaj.org/toc/1930-0433

Access URL: https://doaj.org/article/de86712f1be94ce6944111ecc0554627

Diagnosis and Treatment Challenges of Niemann – Pick Disease, Type B: Clinical Case

Authors: Diana V. Golygina, Aikhee K.-D. Begzy, Viktoriya A. Deeva, Natalya N. Borovik, Vladimir A. Shcherbak

Source: Вопросы современной педиатрии, Vol 24, Iss 1, Pp 37-44 (2025)

Subject Terms: clinical case, children, niemann – pick disease, type в, enzyme replacement therapy, acid sphingomyelinase deficiency, olipudase alfa, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/3684; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

Access URL: https://doaj.org/article/9afda153144d4584af6df5c301e5cea0

Stress and anxiety among caregivers of adult patients with Niemann-Pick Type C disease

Authors: Izabela Dawidowska-Nowak, Joanna Biegańska-Banaś, Beata Kieć-Wilk

Source: Family Medicine & Primary Care Review, Vol 26, Iss 4, Pp 444-449 (2024)

Subject Terms: anxiety, psychological stress, rare diseases, niemann-pick disease., Medicine

File Description: electronic resource

Relation: https://www.termedia.pl/Stress-and-anxiety-among-caregivers-of-adult-patients-with-Niemann-Pick-Type-C-disease,95,55112,1,1.html; https://doaj.org/toc/1734-3402; https://doaj.org/toc/2449-8580

Access URL: https://doaj.org/article/eb029269beb440cb95ae51a99a580797

Acid sphingomyelinase deficiency in France: a retrospective survival study

Authors: Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

Subject Terms: Acid sphingomyelinase deficiency (ASMD), Niemann–Pick disease, Mortality, Survival, Niemann–Pick disease type B, Standardised mortality ratio, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/ab41a96d0cef4ab491a951b59def6bd6

Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease

Authors: Rita dos Santos Mendes, Daniel Almeida do Valle, Tiago dos Santos Bara, Vanessa Furlin, Michelle da Silva Zeny, Mara Lúcia Schmitz Ferreira Santos, Mara L. Cordeiro

Source: Frontiers in Neurology, Vol 16 (2025)

Subject Terms: Niemann-Pick disease type C, neuropsychological assessment, mental disorders, metabolic rare disorders, genetic association studies, NPC, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2025.1542310/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/3646683ac2674dc3970d93461da7927e

Hospital dental care for patients with Niemann-Pick syndrome type B: a case report

Authors: Bernardo da Fonseca Orcina, Verônica Caroline Brito Reia, Denis Zangrando, Paulo Sérgio da Silva Santos

Source: Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-4 (2024)

Subject Terms: Niemann-Pick disease, Type B, Dental care, Dental service, Hospital, Case reports, Specialties of internal medicine, RC581-951

File Description: electronic resource

Relation: https://doaj.org/toc/2731-085X

Access URL: https://doaj.org/article/3e1f958940ea4f019cc2c11b4b33a6a8

Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency

Authors: Federica Deodato, Sara Boenzi, Benedetta Greco, Alessia Graziosi, Carlo Dionisi-Vici

Source: Frontiers in Pediatrics, Vol 12 (2025)

Subject Terms: acid sphingomyelinase deficiency, ASMD, acute neurovisceral phenotype, chronic neurovisceral phenotype, Niemann-Pick disease type A, Olipudase-alfa, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1518344/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/34c2d5177f6a40e7b48767fd510d313a

Instationary metabolic flux analysis reveals that NPC1 inhibition increases glycolysis and decreases mitochondrial metabolism in brain microvascular endothelial cells

Authors: Bilal Moiz, Matthew Walls, Viviana Alpizar Vargas, Anirudh Addepalli, Callie Weber, Andrew Li, Ganesh Sriram, Alisa Morss Clyne

Source: Neurobiology of Disease, Vol 204, Iss , Pp 106769- (2025)

Subject Terms: Niemann-pick disease type C, NPC1, Metabolism, Metabolic flux analysis, Systems biology, Glycolysis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996124003711; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/b4efa673ac9e4a228f22564a74bde80c

Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signaling in a Model of Niemann–Pick Disease Type C

Authors: Meng Lu, Ernestine Hui, Marius Brockhoff, Jakob Träuble, Ana Fernandez‐Villegas, Oliver J Burton, Jacob Lamb, Edward Ward, Philippa J Woodhams, Wadood Tadbier, Nino F Läubli, Stephan Hofmann, Clemens F Kaminski, Antonio Lombardo, Gabriele S Kaminski Schierle

Source: Advanced Science, Vol 11, Iss 44, Pp n/a-n/a (2024)

Subject Terms: electrophysiology, graphene, machine learning, microelectrode array, niemann‐pick disease type C, structured illumination microscopy, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2198-3844

Access URL: https://doaj.org/article/6998b4607d234c0ebee01bcdbb3364c2

Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort

Authors: Froissart, Roseline ^{a, ⁎}, Pettazzoni, Magali ^a, Pagan, Cécile ^a, Levade, Thierry ^{b, c}, Vanier, Marie T. ^{d, e, ⁎}

Source: In Molecular Genetics and Metabolism May 2025 145(1)

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant

Authors: Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl

Source: Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-9 (2024)

Subject Terms: Niemann-Pick disease type C, NPC1 gene, Variant, Specialties of internal medicine, RC581-951

File Description: electronic resource

Relation: https://doaj.org/toc/2731-085X

Access URL: https://doaj.org/article/6b7989370270443b8948f18fe9fb778c

Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC)

Authors: Sydney Stern, Karryn Crisamore, Robert Schuck, Michael Pacanowski

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)

Subject Terms: Niemann Pick disease type C, Rare disease, Biomarkers, Pharmacodynamics, Drug development, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/54c24adfdb8243819932abea70803bed

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Authors: Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova

Source: Вопросы современной педиатрии, Vol 23, Iss 3, Pp 188-196 (2024)

Subject Terms: niemann-pick disease, type а, acid sphingomyelinase, hepatosplenomegaly, cherry-red spot, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/3525; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

Access URL: https://doaj.org/article/6f938547a3b7411995ac4e87c59b3a44

Case report of the perinatal form of Nieman-Pick disease type С against the backdrop of pathogenetic off-label therapy

Authors: Nailya R. Mingacheva, Aelita A. Kamalova, Nargis A. Artykova, Razilya F. Rakhmaeva, Gulnara I. Sageeva

Source: Педиатрическая фармакология, Vol 21, Iss 2, Pp 126-130 (2024)

Subject Terms: children, niemann- pick disease type c, perinatal form, cholestasis, miglustat, Pediatrics, RJ1-570, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.pedpharma.ru/jour/article/view/2439; https://doaj.org/toc/1727-5776; https://doaj.org/toc/2500-3089

Access URL: https://doaj.org/article/335c56c26e9945e0a2eba293e07ae0a9

Sphingolipidoses and Retinal Involvement: A Comprehensive Review

Authors: Chiara Carrozzi, Daniele Fumi, Davide Fasciolo, Federico Di Tizio, Serena Fragiotta, Mariachiara Di Pippo, Solmaz Abdolrahimzadeh

Source: Applied Sciences, Vol 15, Iss 5, p 2863 (2025)

Subject Terms: cherry-red spot, gangliosidoses, Gaucher disease, lysosome, multimodal imaging, Niemann–Pick disease, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3417/15/5/2863; https://doaj.org/toc/2076-3417

Access URL: https://doaj.org/article/d7cd96fb62bd4c84b63d96181dee0af6

CffDNA screening for Niemann–pick disease, type C1: a case series

Authors: Sydney A. Lau, Romy I. Fawaz, Robert Rigobello, Shahad Bawazeer, Nouf M. Alajaji, Eissa Faqeih, Yanchun Li, Yanming Feng, Fan Xia, Christine M. Eng, Malak Abedalthagafi

Source: Frontiers in Medicine, Vol 11 (2024)

Subject Terms: cffDNA screening, non-invasive prenatal testing, autosomal recessive conditions, Niemann–pick disease, monogenic disorders, prenatal diagnosis, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1390693/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/913f08a699d745fba7a63950cd92ee46

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

Authors: Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang

Source: Journal of Lipid Research, Vol 65, Iss 8, Pp 100600- (2024)

Subject Terms: alkyl-lysophosphatidylcholine, Niemann-Pick disease type C, biomarker, mass spectrometry, structural identification, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227524001056; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/69e323f6f49244688375dc2088920f9e

Advances in research on potential therapeutic approaches for Niemann-Pick C1 disease

Authors: Caifeng Zhang, Keke Su, Xu Jiang, Yuping Tian, Ke Li

Source: Frontiers in Pharmacology, Vol 15 (2024)

Subject Terms: cell-based therapy, combination therapy, small molecule therapy, disease models, gene therapy, Niemann-Pick disease type C1, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2024.1465872/full; https://doaj.org/toc/1663-9812

Access URL: https://doaj.org/article/d504e67f39eb43668113aac770807db9

Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases

Authors: Hajira Karim, Lima Oria, Muhsin Elmas

Source: Journal of Biochemical and Clinical Genetics, Vol 7, Iss 1, Pp 056-060 (2024)

Subject Terms: niemann-pick disease, npc1 mutation, cerebellar atrophy, case report, familial disease, whole exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.jbcgenetics.com/?mno=205819; https://doaj.org/toc/1658-807X; https://doaj.org/toc/1658-8088

Access URL: https://doaj.org/article/26de965a897740d6afea4b16024fef60

A diagnosis of non‐neuronopathic and late‐onset acid sphingomyelinase deficiency (Niemann‐Pick disease A/B) following bone marrow biopsy showing foamy histiocytosis

Authors: Ivo N. SahBandar, Gustavo H. B. Maegawa, Danielle Brandman, Jacob H. Rand, Hana I. Lim, Julia T. Geyer

Source: eJHaem, Vol 5, Iss 5, Pp 1078-1079 (2024)

Subject Terms: bone marrow morph, histiocytes, Niemann‐Pick disease, Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://doaj.org/toc/2688-6146

Access URL: https://doaj.org/article/3b8fcac7fa4a46e0a1561203543ebb98