लोड हो रहा है...
Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population
BACKGROUND: Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency. Patients with severe HPA often have a difficult life. Early diagnosis of HPA before the develop...
में बचाया:
| में प्रकाशित: | Orphanet J Rare Dis |
|---|---|
| मुख्य लेखकों: | , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2021
|
| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8114530/ https://ncbi.nlm.nih.gov/pubmed/33980295 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01846-w |
| टैग : |
टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!
|