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Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. [electronic resource] by
- al Aqeel, A
- Ozand, P T
- Gascon, G
- Nester, M
- al Nasser, M
- Brismar, J
- Blau, N
- Hughes, H
- Subramanyan, S B
- Reynolds, C T
Producer: 19910607
In:
Neurology vol. 41
Availability: No items available.
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Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies. [electronic resource] by
- Patel, N
- Alkuraya, H
- Alzahrani, S S
- Nowailaty, S R
- Seidahmed, M Z
- Alhemidan, A
- Ben-Omran, T
- Ghazi, N G
- Al-Aqeel, A
- Al-Owain, M
- Alzaidan, H I
- Faqeih, E
- Kurdi, W
- Rahbeeni, Z
- Ibrahim, N
- Abdulwahab, F
- Hashem, M
- Shaheen, R
- Abouelhoda, M
- Monies, D
- Khan, A O
- Aldahmesh, M A
- Alkuraya, Fowzan S
Producer: 20191114
In:
Clinical genetics vol. 94
Availability: No items available.
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