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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Fatemeh Alipouran et al. Rep Biochem Mol Biol 2024 12(3) 386-392
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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
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Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.
Mashima Ryuichi et al. International journal of molecular sciences 2020 Apr 21(8)
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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
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Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Arias M et al. Neurologia (Barcelona, Spain) 2019 May 34(4) 248-258
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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
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Expanded carrier screening for monogenic disorders: where are we now?
Chokoshvili Davit et al. Prenatal diagnosis 2018 38(1) 59-66
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Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot Tarekegn et al. Orphanet journal of rare diseases 2018 Apr 13(1) 50
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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
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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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Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
Burton Barbara K et al. The Journal of pediatrics 2017 Jul
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Gene therapy shows promise for treating Niemann-Pick disease type C1
NIH, October 26, 2016
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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