Associated Papers
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Vila Cuenca M et al.
International Journal of Molecular Sciences, 2020
32235485 (PubMed )
Supplement: ijms-21-02374-s001.pdf
Clinical relevance of heterozygosis for aceruloplasminemia.
Borges MD et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019
Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea.
Kim HK et al.
Clinical Neuroradiology, 2017
Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series.
Vroegindeweij LH et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2015
Superficial siderosis associated with aceruloplasminemia. Case report.
Matsushima A et al.
Journal of the Neurological Sciences, 2014
Clinicopathological study of Japanese patients with genetic iron overload syndromes.
Hattori A et al.
Pathology International, 2012
Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders.
Kaneko Y et al.
Journal of Gastroenterology, 2010
Multiple motor system dysfunction associated with a heterozygous ceruloplasmin gene mutation.
Jiménez-Huete A et al.
Journal of Neurology, 2008
Extrapyramidal and cerebellar movement disorder in association with heterozygous ceruloplasmin gene mutation.
Kuhn J et al.
Journal of Neurology, 2005
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