Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
<p>Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. More than 250 variants in the GCDH gene have been reported with a varia...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , , , , |
| منشور في: |
2019
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| الموضوعات: | |
| الوسوم: |
إضافة وسم
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