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References from Copper Led the Way but Iron Told the Story: Unravelling the Diagnostic Conundrum in a Case of Aceruloplasminemia. Local targets link to admitted publications; unresolved targets remain external evidence.
Aceruloplasminemia
2018 · External reference
New view of aceruloplasminemia: systematic review and meta-analysis tracking dots from onset to disease development and iron-related features
10.1016/j.rare.2023.100010 · 2023 · External reference
New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease
10.1186/s12876-020-01237-8 · 2020 · External reference
Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score
10.1002/hep.26719 · 2014 · External reference
Molecular and pathological basis of aceruloplasminemia
10.4067/s0716-97602006000100003 · 2006 · External reference
Aceruloplasminemia: a severe neurodegenerative disorder deserving an early diagnosis
10.3389/fnins.2019.00325 · 2019 · External reference
Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia: atypical anemia as a clue for an early diagnosis
10.3390/ijms21072374 · 2020 · External reference
Pathology of hepatic iron overload
10.1002/cld.1051 · 2021 · External reference
Aceruloplasminemia: a case report and review of a rare and misunderstood disorder of iron accumulation
2020 · External reference
Aceruloplasminaemia: a rare but important cause of iron overload
10.1136/bcr-2014-207541 · 2015 · External reference
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation
10.1016/j.jhep.2010.04.039 · 2010 · External reference
Hepatic iron overload in aceruloplasminaemia
10.1136/gut.47.6.858 · 2000 · External reference
Autoimmune hepatitis in the setting of iron overload secondary to heterozygous HFE gene mutation
2022 · External reference
Neurodegeneration with brain iron accumulation disorders overview
2013 · External reference
Aceruloplasminemia with novel mutation, with IgG4-related pachymeningitis – occam's razor or Hickam's dictum?
10.4103/aian.aian_455_23 · 2023 · External reference
Aceruloplasminemia presenting with asymmetric chorea due to a novel frameshift mutation
10.1002/mdc3.13062 · 2020 · External reference
Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with aceruloplasminemia
2020 · External reference
Novel ceruloplasmin gene mutation causing aceruloplasminemia with diabetes in a Chinese woman: a case report
10.21037/apm-21-1086 · 2022 · External reference
Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports
10.1186/s13023-020-01385-w · 2020 · External reference
Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia
10.15252/emmm.201708361 · 2017 · External reference
New orphan disease therapies from the proteome of industrial plasma processing waste—a treatment for aceruloplasminemia
10.1038/s42003-024-05820-7 · 2024 · External reference
