leucine and Deficiency Disease, Ornithine Carbamoyltransferase

leucine has been researched along with Deficiency Disease, Ornithine Carbamoyltransferase in 3 studies

Research

Studies (3)

Timeframe	Studies, this research(%)	All Research%
pre-1990	1 (33.33)	18.7374
1990's	2 (66.67)	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
Tomaszewski, L	1
Malcolm, S; Strautnieks, S	1
Briones, P; Climent, C; García-Pérez, MA; Rodés, M; Rubio, V; Vilaseca, MA	1

Reviews

1 review(s) available for leucine and Deficiency Disease, Ornithine Carbamoyltransferase

Article	Year
[Reye's syndrome]. Pediatria polska, 1982, Volume: 57, Issue:11 Topics: Aflatoxins; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child; Humans; Hypoglycins; Leucine; Mitochondria, Liver; Ornithine Carbamoyltransferase Deficiency Disease; Reye Syndrome	1982

Other Studies

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

Article	Year
Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene. Human molecular genetics, 1993, Volume: 2, Issue:11 Topics: Alanine; Amino Acid Sequence; Arginine; Base Sequence; DNA; DNA Primers; Exons; Female; Humans; Infant; Leucine; Male; Molecular Sequence Data; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Point Mutation; RNA Splicing; RNA, Messenger; X Chromosome	1993
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

Article

Year

Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.

Human molecular genetics, 1993, Volume: 2, Issue:11

Topics: Alanine; Amino Acid Sequence; Arginine; Base Sequence; DNA; DNA Primers; Exons; Female; Humans; Infant; Leucine; Male; Molecular Sequence Data; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Point Mutation; RNA Splicing; RNA, Messenger; X Chromosome

1993

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