Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from
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Genomic structure and mutational spectrum of the bicistronicMOCS1gene defective in molybdenum cofactor deficiency type A
โ Scribed by J. Reiss; Ernst Christensen; Gerhard Kurlemann; Marie-Therese Zabot; Claude Dorche
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 75 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
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TABLE I. Colony-Forming Assay From CD34 + Bone Marrow Cells Serum a BFU-E/10 2 CD34 + cells Control 1 50.2 ยฑ 4.6 Control 2 48.5 ยฑ 14.1 Before chemotherapy 24.4 ยฑ 6.2 b After chemotherapy 50.5 ยฑ 6.5 Values are means ยฑ SD of triplicate cultures. a Control 1; normal AB serum, Control 2; serum from a pa