Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Introduction: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder characterized by developmental delay, seizures, hypotonia, ataxia, skin rash/eczema, alopecia, conjunctivitis/visual problem/optic atrophy and metabolic acidosis. Delayed diagnosis may lead to irreversible neuro...
Shranjeno v:
| Principais autores: | , , , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2020-03-01
|
| Serija: | Molecular Genetics and Metabolism Reports |
| Online dostop: | http://www.sciencedirect.com/science/article/pii/S2214426919300965 |
| Oznake: |
Brez oznak, prvi označite!
|