Condition: Ceruloplasmin deficiency


rs1553759167 in CP gene and Ceruloplasmin deficiency PMID 25864092 2015 Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.

PMID 26777753 2016 Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia?

PMID 11909923 2002 A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity.

PMID 15082597 2004 Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.

PMID 16831606 2006 Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia.

PMID 16629161 2006 Molecular and pathological basis of aceruloplasminemia.

PMID 19095659 2009 Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia.

PMID 28012953 2017 New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

PMID 12351628 2002 Consistent with these findings a missense mutation (G631R), resulting in aceruloplasminemia and predicted to alter the interactions at a single type I copper-binding site, results in the synthesis and secretion only of apoceruloplasmin.