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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 4
1995 6
1996 4
1997 14
1998 8
1999 9
2000 10
2001 14
2002 7
2003 7
2004 4
2005 1
2009 1
2010 1
2020 0
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Search Results

89 results
Results by year
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Page 1
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.
Enzyme replacement and beyond.
Desnick RJ. Desnick RJ. J Inherit Metab Dis. 2001 Apr;24(2):251-65. doi: 10.1023/a:1010331404448. J Inherit Metab Dis. 2001. PMID: 11405344 Review.
Future perspectives for Tay-Sachs disease.
Desnick RJ, Kaback MM. Desnick RJ, et al. Adv Genet. 2001;44:349-56. doi: 10.1016/s0065-2660(01)44091-0. Adv Genet. 2001. PMID: 11596996 Review. No abstract available.
Prenatal genetic screening in the Ashkenazi Jewish population.
Zinberg RE, Kornreich R, Edelmann L, Desnick RJ. Zinberg RE, et al. Clin Perinatol. 2001 Jun;28(2):367-82. doi: 10.1016/s0095-5108(05)70089-0. Clin Perinatol. 2001. PMID: 11499058 Review.
Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy.
Desnick RJ, Wasserstein MP, Banikazemi M. Desnick RJ, et al. Contrib Nephrol. 2001;(136):174-92. doi: 10.1159/000060184. Contrib Nephrol. 2001. PMID: 11688379 Review. No abstract available.
Fabry disease: clinical features and recent advances in enzyme replacement therapy.
Desnick RJ, Wasserstein MP. Desnick RJ, et al. Adv Nephrol Necker Hosp. 2001;31:317-39. Adv Nephrol Necker Hosp. 2001. PMID: 11692469 Review. No abstract available.
Enzyme replacement therapy for Fabry disease, an inherited nephropathy.
Desnick RJ, Banikazemi M, Wasserstein M. Desnick RJ, et al. Clin Nephrol. 2002 Jan;57(1):1-8. doi: 10.5414/cnp57001. Clin Nephrol. 2002. PMID: 11837797 Review.
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Ashley GA, et al. J Hum Genet. 2001;46(4):192-6. doi: 10.1007/s100380170088. J Hum Genet. 2001. PMID: 11322659 Review.
Molecular genetics of congenital erythropoietic porphyria.
Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH. Desnick RJ, et al. Semin Liver Dis. 1998;18(1):77-84. doi: 10.1055/s-2007-1007143. Semin Liver Dis. 1998. PMID: 9516681 Review.
Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing.
Schuchman EH, Miranda SR. Schuchman EH, et al. Genet Test. 1997;1(1):13-9. doi: 10.1089/gte.1997.1.13. Genet Test. 1997. PMID: 10464620 Review.
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