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Screening for lysosomal disorders (1994)

Ullrich, K.

Springer

European journal of pediatrics 153 (1994), S. S38

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ISSN: 1432-1076

Keywords: Lysosomal disorders ; Screening

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Patients at any age who develop regression of learned skills, onset of dementia, loss of motor control and organ enlargement should be considered for lysosomal screening. Morphological and biochemical screening methods may reinforce the clinical suspicion, but they are not diagnostic. A widespread use of enzyme assays that appear to be related to the clinical problems is recommented.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF02138776

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