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.
2. Lysosomal storage disease overview. Sun A Ann Transl Med; 2018 Dec; 6(24):476. PubMed ID: 30740407 [TBL] [Abstract][Full Text] [Related]
3. Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases. Kopitz J; Harzer K; Kohlschütter A; Zöller B; Blenck N; Cantz M Am J Med Genet; 1996 May; 63(1):198-202. PubMed ID: 8723110 [TBL] [Abstract][Full Text] [Related]
5. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. Kasper D; Planells-Cases R; Fuhrmann JC; Scheel O; Zeitz O; Ruether K; Schmitt A; Poët M; Steinfeld R; Schweizer M; Kornak U; Jentsch TJ EMBO J; 2005 Mar; 24(5):1079-91. PubMed ID: 15706348 [TBL] [Abstract][Full Text] [Related]
6. From bedside to cell biology: a century of history on lysosomal dysfunction. Coutinho MF; Matos L; Alves S Gene; 2015 Jan; 555(1):50-8. PubMed ID: 25275857 [TBL] [Abstract][Full Text] [Related]
7. Mass spectrometry in the study of lysosomal storage disorders. Meikle PJ; Fuller M; Hopwood JJ Cell Mol Biol (Noisy-le-grand); 2003 Jul; 49(5):769-77. PubMed ID: 14528914 [TBL] [Abstract][Full Text] [Related]
8. Lysosomal storage disorders: molecular basis and laboratory testing. Filocamo M; Morrone A Hum Genomics; 2011 Mar; 5(3):156-69. PubMed ID: 21504867 [TBL] [Abstract][Full Text] [Related]
9. Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families. Salomäki P; Aula N; Juvonen V; Renlund M; Aula P Prenat Diagn; 2001 May; 21(5):354-8. PubMed ID: 11360275 [TBL] [Abstract][Full Text] [Related]
10. [Lysosomal disorders. Diagnostic role of extra-cerebral biopsy]. Delisle MB; Uro-Coste E; Salvayre R; Levade T Ann Pathol; 2000 Oct; 20(5):527-32. PubMed ID: 11084420 [TBL] [Abstract][Full Text] [Related]