proline and Deficiency Disease, Ornithine Carbamoyltransferase

proline has been researched along with Deficiency Disease, Ornithine Carbamoyltransferase in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	2 (100.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Briones, P; Climent, C; García-Pérez, MA; Rodés, M; Rubio, V; Vilaseca, MA	1
Freisinger, P; Hässler, A; Pontz, BF; Staudt, M; Wermuth, B	1

Other Studies

2 other study(ies) available for proline and Deficiency Disease, Ornithine Carbamoyltransferase

Article	Year
Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6 Topics: Animals; Base Sequence; Codon; Deoxyribonuclease HpaII; Enzyme Stability; Exons; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Leucine; Liver; Mice; Molecular Sequence Data; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Polymerase Chain Reaction; Proline; Rats; Sequence Analysis, DNA	1997
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:1 Topics: Child, Preschool; Female; Histidine; Humans; Liver; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Point Mutation; Proline	1998

Article

Year

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.

Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6

Topics: Animals; Base Sequence; Codon; Deoxyribonuclease HpaII; Enzyme Stability; Exons; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Leucine; Liver; Mice; Molecular Sequence Data; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Polymerase Chain Reaction; Proline; Rats; Sequence Analysis, DNA

1997

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.

Journal of inherited metabolic disease, 1998, Volume: 21, Issue:1

Topics: Child, Preschool; Female; Histidine; Humans; Liver; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Point Mutation; Proline

1998