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A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

• Authors : Wrobe, D.; Henseler, M.; Huettler, S.

• Source: Journal of Inherited Metabolic Disease; Feb2000, Vol. 23 Issue 1, p63-76, 14p

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Advances in therapies for neurological lysosomal storage disorders.

• Authors : Ellison, S.; Parker, H.; Bigger, B.

• Source: Journal of Inherited Metabolic Disease; Sep2023, Vol. 46 Issue 5, p874-905, 32p

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Are there useful biochemical markers of disease activity in lysosomal storage diseases?

• Authors : Winchester, B.

• Source: Journal of Inherited Metabolic Disease; Jul2001, Vol. 24, p52-56, 5p

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Palmitoylation and depalmitoylation defects.

• Authors : Hornemann, Thorsten

• Source: Journal of Inherited Metabolic Disease; Jan2015, Vol. 38 Issue 1, p179-186, 8p

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Lysosomal diseases: diagnostic update.

• Authors : Winchester, Bryan

• Source: Journal of Inherited Metabolic Disease; Jul2014, Vol. 37 Issue 4, p599-608, 10p

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The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.

• Authors : Poupětová, Helena; Ledvinová, Jana; Berná, Linda

• Source: Journal of Inherited Metabolic Disease; Aug2010, Vol. 33 Issue 4, p387-396, 10p

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Pathogenic cascades in lysosomal disease—Why so complex?

• Authors : Walkley, S.

• Source: Journal of Inherited Metabolic Disease; Apr2009, Vol. 32 Issue 2, p181-189, 9p

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Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis.

• Authors : Katz, M.; Sanders, D.; Mooney, B.

• Source: Journal of Inherited Metabolic Disease; Nov2007, Vol. 30 Issue 6, p952-963, 12p

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Glucosylceramide transfer from lysosomes—the missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data.

• Authors : Elleder, M.

• Source: Journal of Inherited Metabolic Disease; Dec2006, Vol. 29 Issue 6, p707-715, 9p

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Contents.

• Source: Journal of Inherited Metabolic Disease; Aug2006 Supplement, Vol. 29 Issue 1, p1-174, 174p

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