Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 4 (of 4 Records) |
| Query Trace: Sandhoff Disease[original query] |
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| Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clinica chimica acta; international journal of clinical chemistry 2002 Apr 318 (1-2): 133-7. Chamoles Néstor A, Blanco Mariana, Gaggioli Daniela, Casentini Cari |
| Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 2004 Oct 114 (4): 909-16. Meikle Peter J, Ranieri Enzo, Simonsen Henrik, Rozaklis Tina, Ramsay Steve L, Whitfield Phillip D, Fuller Maria, Christensen Ernst, Skovby Flemming, Hopwood John |
| Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. Journal of molecular neuroscience : MN 2021 9 72 (3): 555-564. Abtahi Rezvan, Karimzadeh Parvaneh, Rezayi Alireza, Salehpour Shadab, Akbarzadeh Diba, Tonekaboni Seyed Hassan, Emameh Reza Zolfaghari, Houshmand Masso |
| Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants. Scientific reports 2021 2 11 (1): 3231. Mahdieh Nejat, Soveizi Mahdieh, Tavasoli Ali Reza, Rabbani Ali, Ashrafi Mahmoud Reza, Kohlschütter Alfried, Rabbani Bahar |
- Page last reviewed:Feb 1, 2024
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