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

Year Number of Results
1975 3
1978 2
1979 1
1980 1
1981 1
1983 1
1985 1
1987 1
1991 1
1994 1
2001 1
2003 1
2006 2
2007 2
2009 2
2011 2
2012 4
2013 2
2014 1
2015 4
2016 5
2017 4
2018 4
2019 4
2020 5
2021 4
2022 7
2023 8
2024 3

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71 results

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Page 1
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
Niemann-Pick disease type C: an update.
Vanier MT, Pentchev P, Rodriguez-Lafrasse C, Rousson R. Vanier MT, et al. J Inherit Metab Dis. 1991;14(4):580-95. doi: 10.1007/BF01797928. J Inherit Metab Dis. 1991. PMID: 1749223 Review.
Although final classification of Niemann-Pick disease type C must await elucidation of the primary defect(s), present knowledge already establishes that the disease is a nosological entity distinct from Niemann-Pick disease type A and B, and sug …
Although final classification of Niemann-Pick disease type C must await elucidation of the primary defect(s), present knowledge already esta …
Interstitial lung disease in lysosomal storage disorders.
Borie R, Crestani B, Guyard A, Lidove O. Borie R, et al. Eur Respir Rev. 2021 Apr 29;30(160):200363. doi: 10.1183/16000617.0363-2020. Print 2021 Jun 30. Eur Respir Rev. 2021. PMID: 33927007 Free PMC article.
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Kubaski F, Burlina A, Pereira D, Silva C, Herbst ZM, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Poletto E, Bernardes TM, Carvalho GS, Sorte NB, Ferreira FN, Perin N, Clivati MR, de Santana MTS, Lobos SFG, Leão EKEA, Coutinho MP, Pinos PV, Santos MLSF, Penatti DA, Lourenço CM, Polo G, Giugliani R. Kubaski F, et al. Orphanet J Rare Dis. 2022 Nov 8;17(1):407. doi: 10.1186/s13023-022-02560-x. Orphanet J Rare Dis. 2022. PMID: 36348386 Free PMC article.
71 results