相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Teaching NeuroImages: Neurodegeneration with brain iron accumulation in aceruloplasminemia
Natalie E. Parks et al.
NEUROLOGY (2023)
Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms
M. Rusticeanu et al.
CLINICAL GENETICS (2014)
Diagnosis and Classification of Diabetes Mellitus
DIABETES CARE (2014)
Need for Reclassification of Diabetes Secondary to Iron Overload in the ADA and WHO Classifications
Christina Ellervik et al.
DIABETES CARE (2014)
Never Forget Aceruloplasminemia in Case of Highly Suggestive Wilson's Disease Score
Marjon Kerkhof et al.
HEPATOLOGY (2014)
Case of presymptomatic aceruloplasminemia treated with deferasirox
Mayumi Tai et al.
HEPATOLOGY RESEARCH (2014)
Superficial siderosis associated with aceruloplasminemia. Case report
Akira Matsushima et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)
Effectiveness of Oral Iron Chelator Treatment with Deferasirox in an Aceruloplasminemia Patient with a Novel Ceruloplasmin Gene Mutation
Yasuhiro Suzuki et al.
INTERNAL MEDICINE (2013)
Brain and liver iron accumulation in aceruloplasminemia
Koji Fujita et al.
NEUROLOGY (2013)
Criteria for Early Identification of Aceruloplasminemia
Masaro Ogimoto et al.
INTERNAL MEDICINE (2011)
Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia
Minemori Watanabe et al.
INTERNAL MEDICINE (2010)
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation
Armin Finkenstedt et al.
JOURNAL OF HEPATOLOGY (2010)
Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: Clinical presentations and analysis of genetic and molecular pathogenesis
Ayumi Hida et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2010)
The neurological presentation of ceruloplasmin gene mutations
Alisdair McNeill et al.
EUROPEAN NEUROLOGY (2008)
Aceruloplasminemia: a case report
Domenico Di Raimondo et al.
INTERNAL AND EMERGENCY MEDICINE (2008)
Aceruloplasminaemia with progressive atrophy without brain iron overload: treatment with oral chelation
F. M. Skidmore et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)
Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability
Alfonso Fasano et al.
MOVEMENT DISORDERS (2008)
Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia
Wolf Peter Hofmann et al.
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2007)
Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus
Hui-Fang Shang et al.
MOVEMENT DISORDERS (2006)
Early onset insulin-dependent diabetes mellitus as an initial manifestation of aceruloplasminaemia
R. Muroi et al.
DIABETIC MEDICINE (2006)
Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia
Satoshi Kono et al.
GASTROENTEROLOGY (2006)
Evaluation of a diagnostic algorithm for hereditary hemochromatosis in 3,500 patients with diabetes
JU Hahn et al.
DIABETES CARE (2006)
Frontal lobe dysfunction associated with glucose hypometabolism in aceruloplasminemia
H Miyajima et al.
JOURNAL OF NEUROLOGY (2005)
Aceruloplasminemia in an asymptomatic patient with a new mutation.: Diagnosis and family genetic analysis
F Pérez-Aguilar et al.
JOURNAL OF HEPATOLOGY (2005)
Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload
JL Dunaief et al.
OPHTHALMOLOGY (2005)
Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia
I Haemers et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)
Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation
R Mariani et al.
GUT (2004)
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene
Y Hatanaka et al.
INTERNAL MEDICINE (2003)
Aceruloplasminemia, an inherited disorder of iron metabolism
H Miyajima et al.
BIOMETALS (2003)
Mechanisms of copper incorporation into human ceruloplasmin
NE Hellman et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
The copper-iron connection: Hereditary aceruloplasminemia
T Nittis et al.
SEMINARS IN HEMATOLOGY (2002)
Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations
S Bosio et al.
BLOOD (2002)
Aceruloplasminemia:: new clinical, pathophysiological and therapeutic insights
O Loréal et al.
JOURNAL OF HEPATOLOGY (2002)
Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study
C Ellervik et al.
LANCET (2001)
Hepatic iron overload in aceruloplasminaemia
NE Hellman et al.
GUT (2000)
分享论文
