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Quoted phrase not found in phrase index: "Chronic neurovisceral acid sphingomyelinase deficiency"
Page 1
Niemann-Pick disease type C.
Vanier MT. Vanier MT. Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Orphanet J Rare Dis. 2010. PMID: 20525256 Free PMC article. Review.
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120,000 live births. ...The primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of uneste …
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal in …
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Eskes ECB, Sjouke B, Vaz FM, Goorden SMI, van Kuilenburg ABP, Aerts JMFG, Hollak CEM. Eskes ECB, et al. Mol Genet Metab. 2020 May;130(1):16-26. doi: 10.1016/j.ymgme.2020.02.002. Epub 2020 Feb 12. Mol Genet Metab. 2020. PMID: 32088119 Review.
Acid Sphingomyelinase Deficiency (ASMD), or Niemann-Pick type A/B disease, is a rare lipid storage disorder leading to accumulation of sphingomyelin and its precursors primarily in macrophages. The disease has a broad phenotypic spectrum ranging …
Acid Sphingomyelinase Deficiency (ASMD), or Niemann-Pick type A/B disease, is a rare lipid storage disord …
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. Jones SA, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):116-123. doi: 10.1016/j.ymgme.2020.06.008. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32616389 Free article. Review.
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) also known as Niemann-Pick disease, is a rare lysosomal storage disorder with a diverse disease spectrum that includes slowly progressive, chronic visceral (type B) and neurovisceral …
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) also known as Niemann-Pick disease, is a rare lysosom …
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
Lipiński P, Kuchar L, Zakharova EY, Baydakova GV, Ługowska A, Tylki-Szymańska A. Lipiński P, et al. Orphanet J Rare Dis. 2019 Feb 22;14(1):55. doi: 10.1186/s13023-019-1029-1. Orphanet J Rare Dis. 2019. PMID: 30795770 Free PMC article.
BACKGROUND: Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (int …
BACKGROUND: Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) …
The adult form of Niemann-Pick disease type C.
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F. Sévin M, et al. Brain. 2007 Jan;130(Pt 1):120-33. doi: 10.1093/brain/awl260. Epub 2006 Sep 26. Brain. 2007. PMID: 17003072 Review.
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. ...Asymptomatic and non-evolutive visceral signs were often noticed since ear …
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting fro …