Three‐year follow up of using combination therapy with fresh‐frozen plasma and iron chelation in a patient with acaeruloplasminemia-Reference-Cited by-同舟云学术

Three‐year follow up of using combination therapy with fresh‐frozen plasma and iron chelation in a patient with acaeruloplasminemia

Published:2020-10-26 Issue:1 Volume:57 Page:23-28
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Tridimas Andreas¹,Gillett Godfrey T.²,Pollard Sally³,Sadasivam Nandini⁴,Williams Adrian⁵,Mellor Kirsty⁶,Catchpole Anthony⁷,Stepien Karolina M.⁸⁹^ORCID

Affiliation:

1. Department of Clinical Biochemistry and Metabolic Medicine Royal Liverpool Hospital Liverpool UK

2. Laboratory Medicine, Northern General Hospital Sheffield Teaching Hospitals NHS Foundation Trust Sheffield UK

3. Paediatrics Department Bradford Teaching Hospitals NHS Foundation Trust, Bradford Royal Infirmary Bradford UK

4. Red cell and General Haematology Department Manchester Royal Infirmary Manchester UK

5. Haematology Department Bradford Royal Infirmary Bradford UK

6. Clinical Nurse Haemoglobinopathy Bradford Royal Infirmary Bradford UK

7. Scottish Trace Element and Micronutrient Diagnostic and Research Laboratory, Department of Clinical Biochemistry Glasgow Royal Infirmary Glasgow UK

8. Adult Inherited Metabolic Diseases Salford Royal Hospital NHS Trust Salford UK

9. Division of Diabetes, Endocrinology and Gastroenterology University of Manchester Manchester UK

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12176

Reference18 articles.

1. Aceruloplasminemia: A severe neurodegenerative disorder deserving an early diagnosis;Marchi G;Front Neurosci.,2019

2. Alternative RNA Splicing Generates a Glycosylphosphatidylinositol-anchored Form of Ceruloplasmin in Mammalian Brain

3. Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia;Pelucchi S;Parkinsonism Relat Disord.,2015

4. Use of a Stable Copper Isotope (65Cu) in the Differential Diagnosis of Wilson's Disease

5. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration

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1. New orphan disease therapies from the proteome of industrial plasma processing waste- a treatment for aceruloplasminemia;Communications Biology;2024-01-30

2. A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients;Metabolic Brain Disease;2021-08-04