These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
143 related articles for article (PubMed ID: 32685352)
21. Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi. Verma J; Bijarnia-Mahay S; Verma IC Methods Mol Biol; 2017; 1594():265-291. PubMed ID: 28456990 [TBL] [Abstract][Full Text] [Related]
22. [Neurological presentations of lysosomal diseases in adult patients]. Sedel F; Turpin JC; Baumann N Rev Neurol (Paris); 2007 Oct; 163(10):919-29. PubMed ID: 18033028 [TBL] [Abstract][Full Text] [Related]
23. Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C. Capitini C; Feo F; Caciotti A; Tonin R; Lulli M; Coviello D; Guerrini R; Calamai M; Morrone A Biomedicines; 2022 Aug; 10(8):. PubMed ID: 36009508 [TBL] [Abstract][Full Text] [Related]
24. Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. Shaimardanova AA; Chulpanova DS; Solovyeva VV; Mullagulova AI; Kitaeva KV; Allegrucci C; Rizvanov AA Front Med (Lausanne); 2020; 7():576221. PubMed ID: 33195324 [TBL] [Abstract][Full Text] [Related]
26. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. Voorink-Moret M; Goorden SMI; van Kuilenburg ABP; Wijburg FA; Ghauharali-van der Vlugt JMM; Beers-Stet FS; Zoetekouw A; Kulik W; Hollak CEM; Vaz FM Mol Genet Metab; 2018 Feb; 123(2):76-84. PubMed ID: 29290526 [TBL] [Abstract][Full Text] [Related]
27. A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders. Gucciardi A; Legnini E; Di Gangi IM; Corbetta C; Tomanin R; Scarpa M; Giordano G Biomed Chromatogr; 2014 Aug; 28(8):1131-9. PubMed ID: 24449175 [TBL] [Abstract][Full Text] [Related]
28. Expanding newborn screening for lysosomal disorders: opportunities and challenges. Waggoner DJ; Tan CA Dev Disabil Res Rev; 2011; 17(1):9-14. PubMed ID: 22447749 [TBL] [Abstract][Full Text] [Related]
29. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. Gelb MH; Turecek F; Scott CR; Chamoles NA J Inherit Metab Dis; 2006; 29(2-3):397-404. PubMed ID: 16763908 [TBL] [Abstract][Full Text] [Related]
31. General anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy. Bascou NA; Marcos MC; Beltran Quintero ML; Roosen-Marcos MC; Cladis FP; Poe MD; Escolar ML Paediatr Anaesth; 2019 Oct; 29(10):1053-1059. PubMed ID: 31359511 [TBL] [Abstract][Full Text] [Related]
32. Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review. Koto Y; Ueki S; Yamakawa M; Sakai N JBI Evid Synth; 2024 Jul; 22(7):1262-1302. PubMed ID: 38533650 [TBL] [Abstract][Full Text] [Related]
35. Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. Di Rocco M; Rossi A; Parenti G; Allegri AE; Filocamo M; Pessagno A; Tortori-Donati P; Minetti C; Biancheri R Neuropediatrics; 2005 Aug; 36(4):265-9. PubMed ID: 16138252 [TBL] [Abstract][Full Text] [Related]
37. Lipidoses detected in Poland through 1993. Czartoryska B; Tylki-Szymañska A; Górska D; Sawnor-Korszyñska D Pediatr Neurol; 1994 Nov; 11(4):295-7. PubMed ID: 7702688 [TBL] [Abstract][Full Text] [Related]
38. Biochemical pathogenesis of genetic leukodystrophies: comparison of metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe's disease). Suzuki K Neuropediatrics; 1984 Sep; 15 Suppl():32-6. PubMed ID: 6152811 [TBL] [Abstract][Full Text] [Related]
39. A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders. Rappaport J; Manthe RL; Solomon M; Garnacho C; Muro S Mol Pharm; 2016 Feb; 13(2):357-368. PubMed ID: 26702793 [TBL] [Abstract][Full Text] [Related]
40. Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. Kwak JE; Son MY; Son YS; Son MJ; Cho YS Biochem Biophys Res Commun; 2015 Feb; 457(4):554-60. PubMed ID: 25600812 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]