Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles

Author:

Reuser Arnold,Drost Maarten

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology and Child Health

Reference21 articles.

1. BeutlerE, GrabowskiG. Gaucher disease. In:ScriverCR, BeaudetAL, SlyWS, ValleD, editors. The metabolic and molecular bases of inherited disease . 8th ednNew York: McGraw-Hill;2001; 3635–68

2. Sidransky, E and Sherer, DM and Ginns, EI. (1992) Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene Pediatr Res, 32, pp. 494 - 8.

3. Banker, BQ and Miller, JQ and Crocker, AC. (1961) The neurological disorder in infantile Gaucher's disease Trans Assoc Am Physicians, 86, pp. 43 - 8.

4. Nilsson, O and Svennerholm, L. (1982) Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease J Neurochem, 39, pp. 709 - 18.

5. Tran, HA. (2004) Erlenmeyer flask J Clin Endocrinol Metab, 89, pp. 4827 - 8.

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