Page last updated: 2024-11-08

serine and Developmental Disabilities

serine has been researched along with Developmental Disabilities 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.

Developmental Disabilities: Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)

Research Excerpts

ExcerptRelevanceReference
"The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature."1.32Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. ( Assadi, F; Brackbill, EL, 2003)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (50.00)29.6817
2010's2 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ali, Z1
Zulfiqar, S1
Klar, J1
Wikström, J1
Ullah, F1
Khan, A1
Abdullah, U1
Baig, S1
Dahl, N1
Damseh, N1
Simonin, A1
Jalas, C1
Picoraro, JA1
Shaag, A1
Cho, MT1
Yaacov, B1
Neidich, J1
Al-Ashhab, M1
Juusola, J1
Bale, S1
Telegrafi, A1
Retterer, K1
Pappas, JG1
Moran, E1
Cappell, J1
Anyane Yeboa, K1
Abu-Libdeh, B1
Hediger, MA1
Chung, WK1
Elpeleg, O1
Edvardson, S1
Assadi, F1
Brackbill, EL1
de Koning, TJ1
Klomp, LW1

Reviews

1 review available for serine and Developmental Disabilities

ArticleYear
Serine-deficiency syndromes.
    Current opinion in neurology, 2004, Volume: 17, Issue:2

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; Carbohydrate

2004

Other Studies

3 other studies available for serine and Developmental Disabilities

ArticleYear
Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
    BMC medical genetics, 2017, 12-06, Volume: 18, Issue:1

    Topics: Adult; Aged; Amino Acid Sequence; Atrophy; Base Sequence; Binding Sites; Brain; Cerebellar Ataxia; C

2017
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
    Journal of medical genetics, 2015, Volume: 52, Issue:8

    Topics: Adolescent; Amino Acid Transport System ASC; Biological Transport; Child; Child, Preschool; Developm

2015
Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.
    American journal of kidney diseases : the official journal of the National Kidney Foundation, 2003, Volume: 41, Issue:1

    Topics: Adrenal Gland Neoplasms; Amino Acid Substitution; Child; Cryptorchidism; Developmental Disabilities;

2003