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6. The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis. Schon EA; Koga Y; Davidson M; Moraes CT; King MP Biochim Biophys Acta; 1992 Jul; 1101(2):206-9. PubMed ID: 1378759 [TBL] [Abstract][Full Text] [Related]
7. Diagnosis and pathogenesis of late-onset genetic metabolic encephaloneuromyopathies. Federico A Dev Neurosci; 1991; 13(4-5):188-96. PubMed ID: 1817023 [TBL] [Abstract][Full Text] [Related]
8. Enzymatic and biochemical diagnosis of inborn lysosomal diseases with neurological symptoms. Hultberg B; Ockerman PA; Sjöblad S Eur Neurol; 1972; 7(1):101-18. PubMed ID: 4259742 [No Abstract] [Full Text] [Related]
9. Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. Elleder M; Jerábková M; Befekadu A; Hrebícek M; Berná L; Ledvinová J; Hůlková H; Rosewich H; Schymik N; Paton BC; Harzer K Neuropediatrics; 2005 Jun; 36(3):171-80. PubMed ID: 15944902 [TBL] [Abstract][Full Text] [Related]
10. Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts. Thomas GH; Tiller GE; Reynolds LW; Miller CS; Bace JW Biochem Biophys Res Commun; 1976 Jul; 71(1):188-95. PubMed ID: 61029 [No Abstract] [Full Text] [Related]
11. Dyskinesia and dystonia in neurometabolic disorders. Hagberg B; Kyllerman M; Steen G Neuropadiatrie; 1979 Nov; 10(4):305-20. PubMed ID: 583441 [No Abstract] [Full Text] [Related]
12. [Lipid-protein interactions: mechanisms of enzymatic glycolipid catabolism and their genetic restrictive escapes]. Sandhoff K Naturwissenschaften; 1980 Sep; 67(9):431-41. PubMed ID: 7422009 [TBL] [Abstract][Full Text] [Related]
13. Cerebrotendinous xanthomatosis. Grundy SM N Engl J Med; 1984 Dec; 311(26):1694-5. PubMed ID: 6504107 [No Abstract] [Full Text] [Related]
15. A case of GM2-gangliosidosis with total hexosaminidase deficiency. Suzuki Y; Jacob JC; Suzuki K; Suzuki K Neurology; 1970 Apr; 20(4):388. PubMed ID: 5535009 [No Abstract] [Full Text] [Related]