Page last updated: 2024-08-18

pyrroles and Abnormalities, Multiple

pyrroles has been researched along with Abnormalities, Multiple in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	1 (50.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	1 (50.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Baumer, A; Baumgartner, M; Bozorgmehr, B; Giunta, C; Häberle, J; Hausser, I; Kariminejad, A; Kariminejad, MH; Kretz, R; Rohrbach, M	1
Dunner, JA; Elias, S; Martin, AO; Traisman, ES; Traisman, HS	1

Other Studies

2 other study(ies) available for pyrroles and Abnormalities, Multiple

Article	Year
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:3 Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Collagen; delta-1-Pyrroline-5-Carboxylate Reductase; DNA Mutational Analysis; Elastin; Family; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Middle Aged; Models, Biological; Mutation, Missense; Phenotype; Proline; Pyrroles; Pyrroline Carboxylate Reductases; Young Adult	2011
Enhancement of a fra(16)(q22) with distamycin A: a family ascertained through an abnormal proposita. American journal of medical genetics, 1983, Volume: 16, Issue:2 Topics: Abnormalities, Multiple; Child; Chromosome Fragile Sites; Chromosome Fragility; Chromosomes, Human, 16-18; Cleft Palate; Distamycins; Female; Genetic Techniques; Heart Defects, Congenital; Humans; Infant, Newborn; Male; Pyrroles	1983

Article

Year

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

Journal of inherited metabolic disease, 2011, Volume: 34, Issue:3

Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Collagen; delta-1-Pyrroline-5-Carboxylate Reductase; DNA Mutational Analysis; Elastin; Family; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Middle Aged; Models, Biological; Mutation, Missense; Phenotype; Proline; Pyrroles; Pyrroline Carboxylate Reductases; Young Adult

2011

Enhancement of a fra(16)(q22) with distamycin A: a family ascertained through an abnormal proposita.

American journal of medical genetics, 1983, Volume: 16, Issue:2

Topics: Abnormalities, Multiple; Child; Chromosome Fragile Sites; Chromosome Fragility; Chromosomes, Human, 16-18; Cleft Palate; Distamycins; Female; Genetic Techniques; Heart Defects, Congenital; Humans; Infant, Newborn; Male; Pyrroles

1983