Page last updated: 2024-11-08

serine and Congenital Erythropoietic Porphyria

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.

Research Excerpts

ExcerptRelevanceReference
"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."1.33Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. ( Astrin, KH; Berry, AA; Desnick, RJ; Lim, HW; Lucky, AW; Shabbeer, J, 2005)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Berry, AA1
Desnick, RJ1
Astrin, KH1
Shabbeer, J1
Lucky, AW1
Lim, HW1
Tanigawa, K1
Bensidhoum, M1
Takamura, N1
Namba, H1
Yamashita, S1
de Verneuil, H1
Ged, C1

Other Studies

2 other studies available for serine and Congenital Erythropoietic Porphyria

ArticleYear
Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.
    Archives of dermatology, 2005, Volume: 141, Issue:12

    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.
    Human genetics, 1996, Volume: 97, Issue:5

    Topics: Adult; Alleles; Amino Acid Sequence; Base Sequence; DNA Primers; Female; Genes, Recessive; Humans; J

1996