MARC details
| 000 -LEADER |
|---|
| fixed length control field |
05836cam a2200625 i 4500 |
| 001 - CONTROL NUMBER |
|---|
| control field |
ocn894666689 |
| 003 - CONTROL NUMBER IDENTIFIER |
|---|
| control field |
OCoLC |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
|---|
| control field |
20221128212801.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS--GENERAL INFORMATION |
|---|
| fixed length control field |
m d |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
|---|
| fixed length control field |
cr ||||||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
140905s2014 nyua ob 000 0 eng |
| 010 ## - LIBRARY OF CONGRESS CONTROL NUMBER |
|---|
| LC control number |
2019713545 |
| 040 ## - CATALOGING SOURCE |
|---|
| Original cataloging agency |
DLC |
| 019 ## - |
|---|
| -- |
895300259 |
| -- |
914433348 |
| -- |
923676992 |
| -- |
928196241 |
| -- |
992914560 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| ISBN |
9781634630788 |
| Qualifying information |
ebook |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| ISBN |
1634630785 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| Cancelled/invalid ISBN |
1634630718 |
| Qualifying information |
hardcover |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| Cancelled/invalid ISBN |
9781634630719 |
| Qualifying information |
hardcover |
| 035 ## - SYSTEM CONTROL NUMBER |
|---|
| System control number |
886241 |
| -- |
(N$T) |
| 035 ## - SYSTEM CONTROL NUMBER |
|---|
| System control number |
(OCoLC)894666689 |
| Canceled/invalid control number |
(OCoLC)895300259 |
| -- |
(OCoLC)914433348 |
| -- |
(OCoLC)923676992 |
| -- |
(OCoLC)928196241 |
| -- |
(OCoLC)992914560 |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
HEA |
| Subject category code subdivision |
039000 |
| Source |
bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
MED |
| Subject category code subdivision |
014000 |
| Source |
bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
MED |
| Subject category code subdivision |
022000 |
| Source |
bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
MED |
| Subject category code subdivision |
112000 |
| Source |
bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
MED |
| Subject category code subdivision |
045000 |
| Source |
bisacsh |
| 049 ## - LOCAL HOLDINGS (OCLC) |
|---|
| Holding library |
MAIN |
| 245 00 - TITLE STATEMENT |
|---|
| Title |
Congenital neurotransmitter disorders : |
| Subtitle |
a clinical approach |
| Statement of responsibility, etc |
|
| Medium |
[E-Book] |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
|---|
| Place of production, publication, distribution, manufacture |
New York : |
| Name of producer, publisher, distributor, manufacturer |
Nova Biomedical, |
| Date of production, publication, distribution, manufacture, or copyright notice |
[2014] |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Physical description |
1 online resource. |
| 336 ## - CONTENT TYPE |
|---|
| Content type term |
text |
| Content type code |
txt |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
|---|
| Media type term |
computer |
| Media type code |
c |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
|---|
| Carrier type term |
online resource |
| Carrier type code |
cr |
| Source |
rdacarrier |
| 490 1# - SERIES TITLE |
|---|
| Series statement |
Neuroscience research progress series |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE |
|---|
| Bibliography, etc |
Includes bibliographical references and index. |
| 505 0# - CONTENTS |
|---|
| Contents |
CONGENITAL NEUROTRANSMITTER DISORDERS: A CLINICAL APPROACH; CONGENITAL NEUROTRANSMITTER DISORDERS: A CLINICAL APPROACH; Library of Congress Cataloging-in-Publication Data; Disclaimer; Contents; In Memory of Robert Surtees; Preface; List of Disorders; List of Authors; Chapter 1: Signs and Symptoms of Neurotransmitter Disorders: Approach to Diagnosis; Abstract; Introduction; Clinical Presentations; Early-Onset Epileptic Encephalopathies; Progressive Extrapyramidal Movement Disorders; Diagnostic Approach; Blood and Urine First; Investigations in CSF; Outlook; References. |
| 505 8# - CONTENTS |
|---|
| Contents |
Chapter 2: L-Dopa-Responsive Dystonia SyndromesAbstract; Introduction; Disease Characteristics; GTP Cyclohydrolase Deficiency; Clinical Findings; Carrier Findings; Biochemical, Genetic and Other Findings; GTP Cyclohydrolase Deficiency; Sepiapterin Reductase Deficiency; Disease Mechanisms; Management; Diagnosis; Pharmacologic Therapy; Specific Agents; Levodopa (L-Dopa)/carbidopa; 5-Hydroxytryptophan (5HTP)/Carbidopa; Tetrahydrobiopterin (BH4); Optional Pharmacological Therapy (SRD and GTPCHD); Monamine Oxidase Inhibitors (MAOI); Serotonin Re-uptake Inhibitors (SSRI's); Melatonin. |
| 505 8# - CONTENTS |
|---|
| Contents |
Dopamine AgonistsAnticholinergics; Methylphenidate; Lioresal; Pitfalls; Contraindications; Long Term Management and Monitoring; Outcome; References; Chapter 3: Tetrahydrobiopterin Disorders Presenting with Hyperphenylalaninemia; Abstract; Disease Characteristics; Clinical Findings; Disease Mechanisms; Management; Diagnosis; Treatment; Diet; Neurotransmitter Replacement; Folinic Acid Supplementation; Outcomes; References; Chapter 4: Tyrosine Hydroxylase Deficiency; Abstract; Disease Characteristics; Clinical Findings; Biochemical and Genetic Findings; Disease Mechanisms; Management; Diagnosis. |
| 505 8# - CONTENTS |
|---|
| Contents |
TherapyL-Dopa; MAO Inhibitors; Management of L-Dopa Induced Dyskinesias (Table 4); Symptomatic Treatment; Other Therapeutic Strategies; Monitoring of Treatment; Agents/Circumstances to Avoid; Outcome; References; Chapter 5: Aromatic L-Amino Acid Decarboxylase Deficiency; Abstract; Disease Characteristics; Clinical Findings; Psychiatric Disorders in Carriers; Biochemical and Genetic Findings; Disease Mechanisms; Management; Outcome; References; Chapter 6: The Monoamine Transportopathies; Abstract; Disease Characteristics; Clinical Findings; Biochemical and Genetic Findings; Disease Mechanisms. |
| 505 8# - CONTENTS |
|---|
| Contents |
ManagementDiagnosis; General Therapeutic Measures; Specific Medications; Outcome; References; Chapter 7: Defects in Catabolism of Biogenic Amines; Abstract; Disease Characteristics; Clinical Findings; Isolated Monoamine Oxidase-A Deficiency; Monoamine Oxidase Deficiency Associated with Norrie Disease; Combined Monoamine Oxidase-A and B Deficiency; Biochemical and Genetic Findings; Disease Mechanisms; Management; Diagnosis; Treatment; Outcome; References; Chapter 8: Nonketotic Hyperglycinemia; Abstract; Introduction; Biochemistry, Definition, and Classification; Clinical Characteristics. |
| 520 ## - ABSTRACT |
|---|
| Abstract |
Congenital neurotransmitter disorders are nowadays recognized as important causes of severe, progressive encephalopathies mostly of early onset. They are ultraorphan diseases and numerous experiences confirm again and again that diagnosis and treatment of patients is often almost regularly delayed for many years, if ever at all. Specific therapeutic approaches which can lead to excellent outcomes, especially if instituted early, are thereby withheld from patients and their families. The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms leading to measureme. |
| 590 ## - LOCAL NOTE (RLIN) |
|---|
| Local note |
Master record variable field(s) change: 050 |
| 650 #0 - SUBJECT HEADINGS |
|---|
| Subject term |
Neural transmission |
| General subdivision |
Disorders. |
| 650 #0 - SUBJECT HEADINGS |
|---|
| Subject term |
Neural transmission |
| General subdivision |
Genetic aspects. |
| 700 1# - ADDED PERSONAL NAME |
|---|
| Added personal author |
Hoffmann, Georg F. |
| Relator term |
editor. |
| 700 1# - ADDED PERSONAL NAME |
|---|
| Added personal author |
Blau, N. |
| Relator term |
editor. |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE |
|---|
| Uniform title |
Neuroscience research progress series. |
| 856 40 - ONLINE RESOURCE |
|---|
| Uniform Resource Identifier |
<a href="https://search.ebscohost.com/login.aspx?custid=ns123844&authtype=ip,shib&direct=true&scope=site&db=nlebk&db=nlabk&AN=886241">https://search.ebscohost.com/login.aspx?custid=ns123844&authtype=ip,shib&direct=true&scope=site&db=nlebk&db=nlabk&AN=886241</a> |
| Link text |
Kingston Hospital NHS Foundation Trust OpenAthens account holders click here for access |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Suppress in OPAC |
Do not Suppress in OPAC |
| 588 ## - SOURCE OF DESCRIPTION NOTE |
|---|
| Source of description note |
Description based on print version record. |
| 938 ## - |
|---|
| -- |
YBP Library Services |
| -- |
YANK |
| -- |
12073399 |
| 938 ## - |
|---|
| -- |
EBSCOhost |
| -- |
EBSC |
| -- |
886241 |
| 938 ## - |
|---|
| -- |
ebrary |
| -- |
EBRY |
| -- |
ebr10964985 |
| 938 ## - |
|---|
| -- |
ProQuest Ebook Central |
| -- |
EBLB |
| -- |
EBL2097143 |
| 994 ## - |
|---|
| -- |
92 |
| -- |
N$T |