| Case Report Online Published: 25 Nov 2019 | ||||||||||||
JBCGenetics. 2019; 2(2): 147-150 Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs.
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| How to Cite this Article |
| Pubmed Style Miyanawala VL, Beetz C, Waidyanatha S, Schroder S, Karageorgou V, Cozma C, Jasinge E, Rolfs A. Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants. JBCGenetics. 2019; 2(2): 147-150. doi:10.24911/JBCGenetics/183-1562077620 Web Style Miyanawala VL, Beetz C, Waidyanatha S, Schroder S, Karageorgou V, Cozma C, Jasinge E, Rolfs A. Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants. https://www.jbcgenetics.com/?mno=55059 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1562077620 AMA (American Medical Association) Style Miyanawala VL, Beetz C, Waidyanatha S, Schroder S, Karageorgou V, Cozma C, Jasinge E, Rolfs A. Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants. JBCGenetics. 2019; 2(2): 147-150. doi:10.24911/JBCGenetics/183-1562077620 Vancouver/ICMJE Style Miyanawala VL, Beetz C, Waidyanatha S, Schroder S, Karageorgou V, Cozma C, Jasinge E, Rolfs A. Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants. JBCGenetics. (2019), [cited November 14, 2024]; 2(2): 147-150. doi:10.24911/JBCGenetics/183-1562077620 Harvard Style Miyanawala, V. L., Beetz, . C., Waidyanatha, . S., Schroder, . S., Karageorgou, . V., Cozma, . C., Jasinge, . E. & Rolfs, . A. (2019) Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants. JBCGenetics, 2 (2), 147-150. doi:10.24911/JBCGenetics/183-1562077620 Turabian Style Miyanawala, Vindhya Lakmali, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, and Arndt Rolfs. 2019. Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants. Journal of Biochemical and Clinical Genetics, 2 (2), 147-150. doi:10.24911/JBCGenetics/183-1562077620 Chicago Style Miyanawala, Vindhya Lakmali, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, and Arndt Rolfs. "Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants." Journal of Biochemical and Clinical Genetics 2 (2019), 147-150. doi:10.24911/JBCGenetics/183-1562077620 MLA (The Modern Language Association) Style Miyanawala, Vindhya Lakmali, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, and Arndt Rolfs. "Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants." Journal of Biochemical and Clinical Genetics 2.2 (2019), 147-150. Print. doi:10.24911/JBCGenetics/183-1562077620 APA (American Psychological Association) Style Miyanawala, V. L., Beetz, . C., Waidyanatha, . S., Schroder, . S., Karageorgou, . V., Cozma, . C., Jasinge, . E. & Rolfs, . A. (2019) Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants. Journal of Biochemical and Clinical Genetics, 2 (2), 147-150. doi:10.24911/JBCGenetics/183-1562077620 |
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