Page last updated: 2024-11-08

serine and Rubinstein-Taybi Syndrome

serine has been researched along with Rubinstein-Taybi Syndrome in 1 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.

Rubinstein-Taybi Syndrome: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19901 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Sabater, J1
Ferre, C1
Antich, J1

Other Studies

1 other study available for serine and Rubinstein-Taybi Syndrome

ArticleYear
Abnormal levels of aspartic acid, serine and cystine in the plasma in three cases of Rubinstein Taybi's syndrome.
    Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 36, Issue:1

    Topics: Abnormalities, Multiple; Aspartic Acid; Chromatography, Ion Exchange; Cystine; Female; Humans; Intel

1972