|
|
|
|
| LEADER |
02256nam a22003495i 4500 |
| 001 |
978-1-4419-9062-4 |
| 005 |
20190619111909.0 |
| 007 |
cr nn 008mamaa |
| 008 |
121227s2004 xxu| s |||| 0|eng d |
| 020 |
|
|
|a 9781441990624
|
| 024 |
7 |
|
|a 10.1007/978-1-4419-9062-4
|2 doi
|
| 040 |
|
|
|a Sistema de Bibliotecas del Tecnológico de Costa Rica
|
| 100 |
1 |
|
|a Snodgrass, Philip J.
|e author.
|
| 245 |
1 |
0 |
|a Chemical Probes in Biology
|b Science at the Interface of Chemistry, Biology and Medicine /
|c by Philip J. Snodgrass.
|
| 250 |
|
|
|a 1st ed. 2004.
|
| 260 |
# |
# |
|a New York, NY :
|b Springer US :
|b Imprint: Springer,
|c 2004.
|
| 300 |
|
|
|a XVII, 243 p.
|b online resource.
|
| 336 |
|
|
|a text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a computer
|b c
|2 rdamedia
|
| 338 |
|
|
|a online resource
|b cr
|2 rdacarrier
|
| 505 |
0 |
|
|a 1 Gene Structure, Regulation and Function -- 2 Synthesis, Processing and Assembly -- 3 Molecular and Kinetic Characteristics -- 4 Active Site and Other Essential Residues -- 5 Molecular Pathology of OTC Deficiency -- 6 Animal Models of OTC Deficiency and Their Gene Therapy -- Sparse-fur mutant mouse -- Sparse-furash mutant mouse -- Gene therapy of mutant mice -- 7 Clinical and Laboratory Findings in OTC Deficiency -- OTC deficiency in females -- OTC deficiency in males -- Plasma amino acid levels in OTC deficiency -- Plasma amino acid levels from the literature -- Case series of OTC deficiency from the literature -- Symptoms of OTC deficiency precipitated by valproic acid -- Rett syndrome and hyperammonemia -- 8 Diagnosis and Treatment of OTC Deficiency -- Diagnosis -- Loading tests -- Neuroimaging, EEG and pathology in liver and brain -- Treatment -- Gene replacement therapy -- 9 Induction and Suppression of OTC and Urea Cycle Enzymes in Bacteria, Fungi and Mammals -- Development of fetal and neonatal OTC and urea cycle enzymes -- References -- Biographical Note.
|
| 650 |
|
0 |
|a Biochemistry.
|
| 650 |
|
0 |
|a Human genetics.
|
| 650 |
|
0 |
|a Internal medicine.
|
| 650 |
|
0 |
|a Pediatrics.
|
| 650 |
1 |
4 |
|a Biochemistry, general.
|
| 650 |
2 |
4 |
|a Human Genetics.
|
| 650 |
2 |
4 |
|a Internal Medicine.
|
| 650 |
2 |
4 |
|a Pediatrics.
|
| 710 |
2 |
|
|a SpringerLink (Online service)
|
| 773 |
0 |
|
|t Springer eBooks
|
| 856 |
4 |
0 |
|u https://doi.org/10.1007/978-1-4419-9062-4
|