Niemann-pick Disease Type B
What's New
Last Posted: Apr 20, 2024
- Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Yupeng Liu, et al. Orphanet journal of rare diseases 2024 0 (1) 159 - Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry.
Shen-Yang Lim, et al. Journal of movement disorders 2024 0 - Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
Huan Liang, et al. Journal of inherited metabolic disease 2023 0 - NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.
Somerville Emma N, et al. Neurobiology of aging 2023 0 - Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer's dementia.
Johnen Andreas, et al. Orphanet journal of rare diseases 2018 0 (1) 91 - Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C.
Masserrat Abbas, et al. Biomedical reports 2018 0 (1) 65-73 - Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
Polese-Bonatto Márcia, et al. Molecular neurobiology 2019 0 (9) 6426-6435 - Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.
Chiorean Andreea, et al. Scientific reports 2020 0 (1) 18787 - Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.
Ouled Amar Bencheikh Bouchra, et al. Neurobiology of aging 2020 4 - Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.
Qiao Dandi, et al. Human molecular genetics 2018 7
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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