Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in <i>ABCD1</i> resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two neurologic phenotypes: a rapidly progressive...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
MDPI AG
2022-04-01
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| Rangatū: | International Journal of Neonatal Screening |
| Ngā marau: | |
| Urunga tuihono: | https://www.mdpi.com/2409-515X/8/2/29 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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