Page last updated: 2024-11-08

serine and Abnormalities, Congenital

serine has been researched along with Abnormalities, Congenital in 4 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
"A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult."4.02Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. ( Brown, LH; Cowen, EW; Debs, S; Ferreira, CR; Gahl, WA; Groden, C; Kim, HJ; King, KA; King, MC; Lehky, T; Macnamara, E; Merideth, M; Owen, CM; Soldatos, A; Toro, C, 2021)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19902 (50.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (25.00)24.3611
2020's1 (25.00)2.80

Authors

AuthorsStudies
Debs, S1
Ferreira, CR1
Groden, C1
Kim, HJ1
King, KA1
King, MC1
Lehky, T1
Cowen, EW1
Brown, LH1
Merideth, M1
Owen, CM1
Macnamara, E1
Toro, C1
Gahl, WA1
Soldatos, A1
Almontashiri, NAM1
Rodan, LH1
Peake, RWA1
FRIEDMAN, MH1
BLATTNER, RJ1
WILLIAMSON, AP1
SIMONSEN, L1

Other Studies

4 other studies available for serine and Abnormalities, Congenital

ArticleYear
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
    American journal of medical genetics. Part A, 2021, Volume: 185, Issue:7

    Topics: Adult; Child, Preschool; Congenital Abnormalities; Exome Sequencing; Female; Fetal Growth Retardatio

2021
Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies.
    Clinical chemistry, 2018, Volume: 64, Issue:5

    Topics: Child, Preschool; Congenital Abnormalities; Hearing Loss; Humans; Male; Serine

2018
The effect of o-diazoacetyl-L-serine (azaserine) on the pregnancy of the dog; a preliminary report.
    Journal of the American Veterinary Medical Association, 1957, Feb-15, Volume: 130, Issue:4

    Topics: Animals; Antineoplastic Agents; Azaserine; Congenital Abnormalities; Dogs; Embryo, Mammalian; Embryo

1957
Teratogenic changes in early chick embryos following administration of antitumor agent; azaserine.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1958, Volume: 97, Issue:3

    Topics: Antineoplastic Agents; Azaserine; Congenital Abnormalities; Serine; Teratogenesis; Teratogens

1958