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Items: 8

1.

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR.

Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24.

PMID:
21431957
2.
3.

Monoamine neurotransmitter deficiencies.

Pearl PL.

Handb Clin Neurol. 2013;113:1819-25. doi: 10.1016/B978-0-444-59565-2.00051-4. Review.

PMID:
23622404
4.

Tetrahydrobiopterin biosynthesis, regeneration and functions.

Thöny B, Auerbach G, Blau N.

Biochem J. 2000 Apr 1;347 Pt 1:1-16. Review.

5.

Red cell enzymopathies as a model of inborn errors of metabolism.

Miwa S, Kanno H, Hirono A, Fujii H.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:112-9. Review.

PMID:
8629088
6.

[Biopterin and child neurologic disease].

Shintaku H.

No To Hattatsu. 2009 Jan;41(1):5-10. Review. Japanese.

PMID:
19172809
7.

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

Thöny B, Blau N.

Hum Mutat. 1997;10(1):11-20. Review.

PMID:
9222755
8.

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.

Camats N, Pandey AV, Fernández-Cancio M, Fernández JM, Ortega AM, Udhane S, Andaluz P, Audí L, Flück CE.

Clin Endocrinol (Oxf). 2014 Feb;80(2):191-9. doi: 10.1111/cen.12293. Epub 2013 Aug 17. Review.

PMID:
23859637

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