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E J Langereis, I E T van den Berg, D J J Halley, B J H M Poorthuis, F M Vaz, J H J Wokke, G E Linthorst
INTRODUCTION: Recent studies have indicated that a proportion of patients with renal failure, left ventricular hypertrophy, or cryptogenic stroke have sequence variants in their aGal A gene (Fabry disease), which has resulted in an increase in diagnostic activities for this disorder. The diagnostic process for lysosomal storage disorders may result in findings of unknown clinical significance. Here we report such an unexpected outcome. CASE: A 32-year-old male presented at the emergency department because of a transient ischemic attack...
2013: JIMD Reports
J J Martin, C Ceuterick
Morphologic data from four fetal cases of mucopolysaccharidoses (2 MPS 1 H, 1 MPS 2, 1 MPS 3 A) are compared with six postnatal observations (2 MPS 1 H, 1 MPS 1 H- 1S, 1 MPS 2, 1 MPS 3A, 1 MPS 3C) and to age-matched controls. Since most of the lesions are difficult to analyze in fetuses by light microscopy, standard electron microscopic techniques have been used to check the structure of representative levels in the nervous system and visceral organs. The following conclusions are drawn in this comparative study: (1) prenatal MPS cases are already affected at an early fetal age; (2) in affected fetuses, the intraneuronal storage is much more severe in the more mature neurons, e...
1983: Clinical Neuropathology
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