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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2002 | 1 |
2004 | 1 |
2013 | 1 |
2024 | 0 |
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New Single Nucleotide Deletion In the SMPD1 Gene Causes Niemann Pick Disease Type A in a Child from Southwest Iran: A Case Report.
Iran J Pediatr. 2013 Apr;23(2):233-6.
Iran J Pediatr. 2013.
PMID: 23724191
Free PMC article.
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH.
Simonaro CM, et al.
Am J Hum Genet. 2002 Dec;71(6):1413-9. doi: 10.1086/345074. Epub 2002 Oct 4.
Am J Hum Genet. 2002.
PMID: 12369017
Free PMC article.
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Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
Ricci V, Stroppiano M, Corsolini F, Di Rocco M, Parenti G, Regis S, Grossi S, Biancheri R, Mazzotti R, Filocamo M.
Ricci V, et al.
Hum Mutat. 2004 Jul;24(1):105. doi: 10.1002/humu.9258.
Hum Mutat. 2004.
PMID: 15221801
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