Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies
Author:
Funder
American Heart Association Scientist Development Grant
Publisher
Elsevier BV
Subject
General Medicine,Biochemistry
Reference45 articles.
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2. Cystathionine b-synthase mutations in homocystinuria;Kraus;Hum. Mutat.,1999
3. Disorders of transsulfuration;Mudd,2001
4. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency;Morris;J. Inherit. Metab. Dis.,2017
5. Strategies for the treatment of cystathionine b-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years;Walter;Eur. J. Pediatr.,1998
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