Occupational Asthma Reference
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Lindhard A, Graem N, Skovby F, Jeppesen D,
Postmortem findings and prenatal diagnosis of Zellweger syndrome. Case report,
Acta Pathologica Microbiologica et Immunologica Sc,
1993;101:226-228,
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Keywords: oa, diagnosis, acid, filter, paper, pregnancy
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Abstract
The postmortem findings of siderosis, renal cortical cysts, pachygyria, cortical heterotopia of the brain and cerebellar hypoplasia in a seven-week-old infant with craniofacial dysmorphism and hypotonia prompted the diagnosis of Zellweger syndrome. This was confirmed by analysis of very-long-chain fatty acids in blood spots from filter paper, collected in the neonatal period, and allowed first trimester diagnosis in the subsequent pregnancies
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