serine has been researched along with Congenital Erythropoietic Porphyria in 2 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
Excerpt | Relevance | Reference |
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"Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by the deficient activity of the heme biosynthetic enzyme, uroporphyrinogen III synthase (URO-synthase), and the accumulation of the nonphysiologic and phototoxic porphyrin I isomers." | 1.33 | Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. ( Astrin, KH; Berry, AA; Desnick, RJ; Lim, HW; Lucky, AW; Shabbeer, J, 2005) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (50.00) | 18.2507 |
2000's | 1 (50.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Berry, AA | 1 |
Desnick, RJ | 1 |
Astrin, KH | 1 |
Shabbeer, J | 1 |
Lucky, AW | 1 |
Lim, HW | 1 |
Tanigawa, K | 1 |
Bensidhoum, M | 1 |
Takamura, N | 1 |
Namba, H | 1 |
Yamashita, S | 1 |
de Verneuil, H | 1 |
Ged, C | 1 |
2 other studies available for serine and Congenital Erythropoietic Porphyria
Article | Year |
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Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.
Topics: Adolescent; Alanine; Child, Preschool; Exons; Genetic Counseling; Genotype; Glycine; Humans; Male; M | 2005 |
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
Topics: Adult; Alleles; Amino Acid Sequence; Base Sequence; DNA Primers; Female; Genes, Recessive; Humans; J | 1996 |