Aceruloplasminemia: a case report

scientific article published on 12 April 2008

Aceruloplasminemia: a case report is …
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scholarly articleQ13442814

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P356DOI10.1007/S11739-008-0150-2
P698PubMed publication ID18408989

P50authorAntonino TuttolomondoQ41452432
Antonio PintoQ48357572
P2093author name stringClara Camaschella
Giuseppe Licata
Domenico Di Raimondo
Paola Fernandez
P2860cites workCharacterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.Q50335648
Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.Q50335649
Hereditary ceruloplasmin deficiency with hemosiderosisQ50335650
Fine structure of the human ceruloplasmin geneQ72124159
Aceruloplasminemia: molecular characterization of this disorder of iron metabolismQ24564471
Complete cDNA sequence of human preceruloplasminQ24628397
Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporterQ28145559
The World Health Organization (WHO) classification of the myeloid neoplasmsQ28202501
Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brainQ28575311
A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasmaQ30583066
Human genes encoding prothrombin and ceruloplasmin map to 11p11-q12 and 3q21-24, respectivelyQ34180221
Human ceruloplasmin. Tissue-specific expression of transcripts produced by alternative splicing.Q34336612
Use of desferrioxamine in the treatment of aceruloplasminemiaQ34419336
Molecular and pathological basis of aceruloplasminemiaQ34566666
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degenerationQ34690797
A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity.Q35466639
Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.Q35596505
Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron effluxQ35632453
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasisQ35754529
Mechanisms of copper incorporation into human ceruloplasminQ40701100
Hepatic iron overload in aceruloplasminaemiaQ41774921
Aceruloplasminemia, an iron metabolic disorderQ42455448
Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese familyQ42485956
Increased oxysterols associated with iron accumulation in the brains and visceral organs of acaeruloplasminaemia patientsQ43700332
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insightsQ44014364
Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations.Q44117658
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphateQ48269852
CSF abnormalities in patients with aceruloplasminemiaQ48370631
A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosisQ48484051
Iron induced oxidative damage as a potential factor in age-related macular degeneration: the Cogan LectureQ48558289
Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemiaQ48591283
MR imaging of cerebral cortical involvement in aceruloplasminemia.Q48972880
P433issue4
P921main subjectaceruloplasminemiaQ337604
P304page(s)395-399
P577publication date2008-04-12
P1433published inInternal and emergency medicineQ26842320
P1476titleAceruloplasminemia: a case report
P478volume3