Coincidence of 2 severe chronic diseases: presymptomatic diagnosis of Wilson disease in a boy with severe haemophilia A. [electronic resource]
Producer: 20140324Description: 174-5 p. digitalISSN:- 1439-3824
- Adenosine Triphosphatases -- genetics
- Cation Transport Proteins -- genetics
- Chromosome Deletion
- Chromosome Inversion
- Copper-Transporting ATPases
- DNA Mutational Analysis
- Early Diagnosis
- Factor VIII -- genetics
- Genetic Carrier Screening
- Hemophilia A -- complications
- Hepatolenticular Degeneration -- complications
- Humans
- Introns
- Liver Function Tests
- Male
- Penicillamine -- therapeutic use
- Ultrasonography
- Vitamin B 6 -- therapeutic use
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Publication Type: Case Reports; Journal Article
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