The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
Background: Dihydrolipoamide dehydrogenase deficiency (DLDD) is a rare metabolic disorder inherited in an autosomal recessive manner. This heterogeneous disease has a variable clinical presentation, onset, and biochemical markers. Materials and methods: We retrospectively reviewed the clinical and m...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Elsevier
2021-12-01
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| Rangatū: | Molecular Genetics and Metabolism Reports |
| Ngā marau: | |
| Urunga tuihono: | http://www.sciencedirect.com/science/article/pii/S2214426921001129 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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