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About 90 results

ALLMedicine™ Aceruloplasminemia Center

Research & Reviews  35 results

Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pa...
https://doi.org/10.1080/08880018.2022.2140235
Pediatric Hematology and Oncology; Gok V, Ozcan A et. al.

Oct 30th, 2022 - Aceruloplasminemia inherited autosomal recessively in the ceruloplasmin gene is a progressive disease with iron accumulation in various organs such as the brain, liver, pancreas, and retina. Ceruloplasmin gene encodes ceruloplasmin protein, which ...

Clinical Curative Effect Evaluation Study of Treatment of Oral Deferiprone Tablets in Aceruloplasminaemia Patients
https://clinicaltrials.gov/ct2/show/NCT04184453

Nov 23rd, 2021 - Diabetes is one of the most severe symptom in aceruloplasminemia. In this study, we use R2* of pancreas MRI to evaluate the effect of deferiprone treatment.

Novel ceruloplasmin gene mutation causing aceruloplasminemia with diabetes in a Chinese...
https://doi.org/10.21037/apm-21-1086
Annals of Palliative Medicine; Xiao Y, Zhu C et. al.

Oct 22nd, 2021 - Hereditary aceruloplasminemia (ACP) is a rare adult-onset autosomal recessive disease characterized by a ceruloplasmin (CP) gene mutation and defective or absent CP function. In the present study, we report a case of ACP in a 34-year-old Chinese w...

Off-resonance saturation as an MRI method to quantify mineral- iron in the post-mortem ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293166
Magnetic Resonance in Medicine; Bossoni L, Hegeman-Kleinn I et. al.

Oct 17th, 2021 - To employ an off-resonance saturation method to measure the mineral-iron pool in the postmortem brain, which is an endogenous contrast agent that can give information on cellular iron status. An off-resonance saturation acquisition protocol was im...

A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of...
https://doi.org/10.1007/s11011-021-00799-0
Metabolic Brain Disease; Xu WQ, Ni W et. al.

Aug 5th, 2021 - Aceruloplasminemia (ACP) is a rare disorder of iron overload resulting from ceruloplasmin (CP) variants. Because of its rarity and heterogeneity, the diagnosis of ACP is often missed or misdiagnosed. Here, we aim to present a clinical spectrum of ...

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Clinicaltrials.gov  1 results

Clinical Curative Effect Evaluation Study of Treatment of Oral Deferiprone Tablets in Aceruloplasminaemia Patients
https://clinicaltrials.gov/ct2/show/NCT04184453

Nov 23rd, 2021 - Diabetes is one of the most severe symptom in aceruloplasminemia. In this study, we use R2* of pancreas MRI to evaluate the effect of deferiprone treatment.

see more →