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Updated: Apr 15, 2026

Atomic Absorbance Spectroscopy to Measure Intracellular Zinc Pools in Mammalian Cells
Published on: May 16, 2019
Clinical zinc deficiency as early presentation of Wilson disease
Stephanie Van Biervliet1, Sébastien Küry, Ruth De Bruyne
1*Pediatric Gastroenterology and Hepatology Department †Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium ‡CHU Nantes, Service de Génétique Médicale, Nantes, Cedex 1 §Laboratoire LABCATAL, Montrouge, France.
Abstract:
Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2+) transporting polypeptide (ATP7B) gene. The copper accumulation in different organs leads to the suspicion of Wilson disease. We describe a child with clinical zinc deficiency as presenting symptom of Wilson disease, which was confirmed by 2 mutations within the ATP7B gene and an increased copper excretion.
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