A diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency was made in four sibs at different ages. The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomocysteinemia and hypomethioninemia were found asso
Myoadenylate deaminase deficiency: A clinical, genetic, and biochemical study in nine families
โ Scribed by Dr. Sietze P. T. Sinkeler; Dr. M. G. Joosten; Dr. Ron A. Wevers; Dr. T. Lian Oei; Dr. Alga E. M. Jacobs; Dr. Jacques H. Veerkamp; Dr. Ben C. J. Hamel
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 410 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0148-639X
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