Niemann-pick Disease
What's New
Last Posted: Apr 16, 2024
- Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Fatemeh Alipouran et al. Rep Biochem Mol Biol 2024 12(3) 386-392 - Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Tarekegn Geberhiwot et al. Orphanet J Rare Dis 2023 18(1) 85 - Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.
Mashima Ryuichi et al. International journal of molecular sciences 2020 Apr 21(8) - Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz Gloria et al. JIMD reports 2020 Jan 51(1) 53-61 - Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
Sobrido María-Jesús et al. Orphanet journal of rare diseases 2019 Jan 14(1) 20 - Expanded carrier screening for monogenic disorders: where are we now?
Chokoshvili Davit et al. Prenatal diagnosis 2018 38(1) 59-66 - Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Arias M et al. Neurologia (Barcelona, Spain) 2019 May 34(4) 248-258 - Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot Tarekegn et al. Orphanet journal of rare diseases 2018 Apr 13(1) 50 - Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
Voorink-Moret M et al. Molecular genetics and metabolism 2017 Dec - Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Jiang Xuntian et al. Science translational medicine 2016 May 8(337) 337ra63
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Content Summary
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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