Ornithine transcarbamylase: basic science and clinical considerations
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Boston [u.a.]
Kluwer Acad. Publ.
2004
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis Klappentext |
| Beschreibung: | Includes bibliographical references (p. [183]-237) and index |
| Beschreibung: | XIV, 242 S. Ill. |
| ISBN: | 1402076835 |
Internformat
MARC
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| 245 | 1 | 0 | |a Ornithine transcarbamylase |b basic science and clinical considerations |c Philip J. Snodgrass |
| 264 | 1 | |a Boston [u.a.] |b Kluwer Acad. Publ. |c 2004 | |
| 300 | |a XIV, 242 S. |b Ill. | ||
| 336 | |b txt |2 rdacontent | ||
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| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Includes bibliographical references (p. [183]-237) and index | ||
| 650 | 4 | |a Ornithine Carbamoyltransferase Deficiency Disease | |
| 650 | 4 | |a Ornithine Carbamoyltransferase Deficiency Disease |x diagnosis | |
| 650 | 4 | |a Ornithine carbamoyltransferase | |
| 650 | 4 | |a Ornithine carbamoyltransferase deficiency | |
| 650 | 0 | 7 | |a Ornithintranscarbamylase-Mangel |0 (DE-588)4786806-5 |2 gnd |9 rswk-swf |
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Datensatz im Suchindex
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|---|---|
| adam_text | Contents
Preface xiii
Acknowledgments xv
1 Gene
2
3
4
5
6
Gene Therapy
Sparse-fur mutant mouse
Sparse-f urash mutant mouse
Gene therapy of mutant mice
7
OTC deficiency in females
OTC deficiency in males
Plasma
Plasma
Case series of OTC deficiency from the literature
viti
Symptoms
Rett syndrome and hyperammonemia
Diagnosis and Treatment of OTC Deficiency
Diagnosis
Loading tests
Neuroimaging, EEG and pathology in liver and
brain
Treatment
Gene replacement therapy
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
Index
Biographical Note
1
fi-
[ 1
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111
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¡
lîh
,1
fi
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1
,f
I-I
1.,
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tr
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OTC
.il
1>-
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III u*
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1
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Ornithine Transcarbamylase
Philip J. Snodgrass
O» nithino transcarbamylase is one of tnu fi ,(-Mti^.
most important metabolic cycle in humans
basic science of this enzyme is well kno vn
been
published. It serves as a model prote n to>
enzyme that is imported into mitochonclna at l
also has considerable clinical interest, as OTC w
OTC deficiency is a relatively frequent and
Mutant mouse modeis have been used to
patients.
ORNITHINE TRANSCARBAMYLASE: Basic Science
Considerations, written by a leading exp^
assembles and analyzes more than
research. It will be the definitive resource
geneticists, and internists who care for patieiii n nTn-! ii
as for basic scientists and genetic researehe
mammals and the
Pliilip J. Snodgrass, M.D., is a Professor
University School of Medicine.
|
| adam_txt |
Contents
Preface xiii
Acknowledgments xv
1 Gene
2
3
4
5
6
Gene Therapy
Sparse-fur mutant mouse
Sparse-f urash mutant mouse
Gene therapy of mutant mice
7
OTC deficiency in females
OTC deficiency in males
Plasma
Plasma
Case series of OTC deficiency from the literature
viti
Symptoms
Rett syndrome and hyperammonemia
Diagnosis and Treatment of OTC Deficiency
Diagnosis
Loading tests
Neuroimaging, EEG and pathology in liver and
brain
Treatment
Gene replacement therapy
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
Index
Biographical Note
1
fi-
[ 1
r,
111
(
¡
lîh
,1"
fi
i-
' 1
,f
I-I
1.,
i
'S
tr
!i>Jl
OTC
.il
1>-
uh
III u*
«.
if
, 1-
1
II |.
fin b
Ornithine Transcarbamylase
Philip J. Snodgrass
O»'nithino transcarbamylase is one of tnu fi\,(-Mti^.
most important metabolic cycle in humans
basic science of this enzyme is well kno'vn
been
published. It serves as a model prote n to>
enzyme that is imported into mitochonclna at"l
also has considerable clinical interest, as OTC w
OTC deficiency is a relatively frequent and
Mutant mouse modeis have been used to
patients.
ORNITHINE TRANSCARBAMYLASE: Basic Science
Considerations, written by a leading exp^
assembles and analyzes more than
research. It will be the definitive resource
geneticists, and internists who care for patieiii n nTn-!'ii
as for basic scientists and genetic researehe
mammals and the
Pliilip J. Snodgrass, M.D., is a Professor
University School of Medicine. |
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| isbn | 1402076835 |
| language | English |
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| spelling | Snodgrass, Philip J. Verfasser aut Ornithine transcarbamylase basic science and clinical considerations Philip J. Snodgrass Boston [u.a.] Kluwer Acad. Publ. 2004 XIV, 242 S. Ill. txt rdacontent n rdamedia nc rdacarrier Includes bibliographical references (p. [183]-237) and index Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carbamoyltransferase Deficiency Disease diagnosis Ornithine carbamoyltransferase Ornithine carbamoyltransferase deficiency Ornithintranscarbamylase-Mangel (DE-588)4786806-5 gnd rswk-swf Ornithintranscarbamylase-Mangel (DE-588)4786806-5 s b DE-604 Digitalisierung UBRegensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014824729&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=014824729&sequence=000002&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext |
| spellingShingle | Snodgrass, Philip J. Ornithine transcarbamylase basic science and clinical considerations Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carbamoyltransferase Deficiency Disease diagnosis Ornithine carbamoyltransferase Ornithine carbamoyltransferase deficiency Ornithintranscarbamylase-Mangel (DE-588)4786806-5 gnd |
| subject_GND | (DE-588)4786806-5 |
| title | Ornithine transcarbamylase basic science and clinical considerations |
| title_auth | Ornithine transcarbamylase basic science and clinical considerations |
| title_exact_search | Ornithine transcarbamylase basic science and clinical considerations |
| title_exact_search_txtP | Ornithine transcarbamylase basic science and clinical considerations |
| title_full | Ornithine transcarbamylase basic science and clinical considerations Philip J. Snodgrass |
| title_fullStr | Ornithine transcarbamylase basic science and clinical considerations Philip J. Snodgrass |
| title_full_unstemmed | Ornithine transcarbamylase basic science and clinical considerations Philip J. Snodgrass |
| title_short | Ornithine transcarbamylase |
| title_sort | ornithine transcarbamylase basic science and clinical considerations |
| title_sub | basic science and clinical considerations |
| topic | Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carbamoyltransferase Deficiency Disease diagnosis Ornithine carbamoyltransferase Ornithine carbamoyltransferase deficiency Ornithintranscarbamylase-Mangel (DE-588)4786806-5 gnd |
| topic_facet | Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carbamoyltransferase Deficiency Disease diagnosis Ornithine carbamoyltransferase Ornithine carbamoyltransferase deficiency Ornithintranscarbamylase-Mangel |
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