Congenital neurotransmitter disorders: a clinical approach
Gespeichert in:
| Weitere Verfasser: | , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
New York
Nova Biomedical
[2014]
|
| Schriftenreihe: | Neuroscience research progress series
|
| Schlagworte: | |
| Beschreibung: | Vendor-supplied metadata |
| Beschreibung: | 1 online resource |
| ISBN: | 9781634630788 1634630785 |
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| 245 | 1 | 0 | |a Congenital neurotransmitter disorders |b a clinical approach |c Georg F. Hoffmann, Nenad Blau, editors |
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| 505 | 8 | |a 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 | |a 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 | |a 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 | |a 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 | |a 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 | |
| 505 | 8 | |a 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 | |
| 650 | 7 | |a HEALTH & FITNESS / Diseases / General |2 bisacsh | |
| 650 | 7 | |a MEDICAL / Clinical Medicine |2 bisacsh | |
| 650 | 7 | |a MEDICAL / Diseases |2 bisacsh | |
| 650 | 7 | |a MEDICAL / Evidence-Based Medicine |2 bisacsh | |
| 650 | 7 | |a MEDICAL / Internal Medicine |2 bisacsh | |
| 650 | 4 | |a Central nervous system / Diseases | |
| 650 | 4 | |a Pediatric intensive care | |
| 650 | 4 | |a Pediatric neurology | |
| 650 | 4 | |a Pediatrics | |
| 650 | 4 | |a Evidenz-basierte Medizin | |
| 650 | 4 | |a Innere Medizin | |
| 650 | 4 | |a Medizin | |
| 650 | 4 | |a Neural transmission |x Disorders |a Neural transmission |x Genetic aspects | |
| 700 | 1 | |a Hoffmann, Georg F. |4 edt | |
| 700 | 1 | |a Blau, Nenad |4 edt | |
| 776 | 0 | 8 | |i Erscheint auch als |n Druck-Ausgabe |t Congenital neurotransmitter disorders |d [Place of publication not identified] : Nova Science, 2014 |z 1634630718 |z 9781634630719 |
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Datensatz im Suchindex
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| author2 | Hoffmann, Georg F. Blau, Nenad |
| author2_role | edt edt |
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| author_facet | Hoffmann, Georg F. Blau, Nenad |
| building | Verbundindex |
| bvnumber | BV044358747 |
| collection | ZDB-4-NLEBK |
| 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 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 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 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 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 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 |
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| dewey-tens | 610 - Medicine and health |
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| illustrated | Not Illustrated |
| indexdate | 2024-07-10T07:50:43Z |
| institution | BVB |
| isbn | 9781634630788 1634630785 |
| language | English |
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| series2 | Neuroscience research progress series |
| spelling | Congenital neurotransmitter disorders a clinical approach Georg F. Hoffmann, Nenad Blau, editors New York Nova Biomedical [2014] © 2014 1 online resource txt rdacontent c rdamedia cr rdacarrier Neuroscience research progress series Vendor-supplied metadata 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 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 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 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 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 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 HEALTH & FITNESS / Diseases / General bisacsh MEDICAL / Clinical Medicine bisacsh MEDICAL / Diseases bisacsh MEDICAL / Evidence-Based Medicine bisacsh MEDICAL / Internal Medicine bisacsh Central nervous system / Diseases Pediatric intensive care Pediatric neurology Pediatrics Evidenz-basierte Medizin Innere Medizin Medizin Neural transmission Disorders Neural transmission Genetic aspects Hoffmann, Georg F. edt Blau, Nenad edt Erscheint auch als Druck-Ausgabe Congenital neurotransmitter disorders [Place of publication not identified] : Nova Science, 2014 1634630718 9781634630719 |
| spellingShingle | Congenital neurotransmitter disorders a clinical approach 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 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 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 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 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 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 HEALTH & FITNESS / Diseases / General bisacsh MEDICAL / Clinical Medicine bisacsh MEDICAL / Diseases bisacsh MEDICAL / Evidence-Based Medicine bisacsh MEDICAL / Internal Medicine bisacsh Central nervous system / Diseases Pediatric intensive care Pediatric neurology Pediatrics Evidenz-basierte Medizin Innere Medizin Medizin Neural transmission Disorders Neural transmission Genetic aspects |
| title | Congenital neurotransmitter disorders a clinical approach |
| title_auth | Congenital neurotransmitter disorders a clinical approach |
| title_exact_search | Congenital neurotransmitter disorders a clinical approach |
| title_full | Congenital neurotransmitter disorders a clinical approach Georg F. Hoffmann, Nenad Blau, editors |
| title_fullStr | Congenital neurotransmitter disorders a clinical approach Georg F. Hoffmann, Nenad Blau, editors |
| title_full_unstemmed | Congenital neurotransmitter disorders a clinical approach Georg F. Hoffmann, Nenad Blau, editors |
| title_short | Congenital neurotransmitter disorders |
| title_sort | congenital neurotransmitter disorders a clinical approach |
| title_sub | a clinical approach |
| topic | HEALTH & FITNESS / Diseases / General bisacsh MEDICAL / Clinical Medicine bisacsh MEDICAL / Diseases bisacsh MEDICAL / Evidence-Based Medicine bisacsh MEDICAL / Internal Medicine bisacsh Central nervous system / Diseases Pediatric intensive care Pediatric neurology Pediatrics Evidenz-basierte Medizin Innere Medizin Medizin Neural transmission Disorders Neural transmission Genetic aspects |
| topic_facet | HEALTH & FITNESS / Diseases / General MEDICAL / Clinical Medicine MEDICAL / Diseases MEDICAL / Evidence-Based Medicine MEDICAL / Internal Medicine Central nervous system / Diseases Pediatric intensive care Pediatric neurology Pediatrics Evidenz-basierte Medizin Innere Medizin Medizin Neural transmission Disorders Neural transmission Genetic aspects |
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