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001 ocn894666689
003 OCoLC
005 20221128212801.0
006 m d
007 cr |||||||||||
008 140905s2014 nyua ob 000 0 eng
010 _a 2019713545
040 _aDLC
_beng
_erda
_cDLC
_dN$T
_dYDXCP
_dE7B
_dEBLCP
_dOCLCF
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019 _a895300259
_a914433348
_a923676992
_a928196241
_a992914560
020 _a9781634630788
_qebook
020 _a1634630785
020 _z1634630718
_qhardcover
020 _z9781634630719
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035 _a886241
_b(N$T)
035 _a(OCoLC)894666689
_z(OCoLC)895300259
_z(OCoLC)914433348
_z(OCoLC)923676992
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_z(OCoLC)992914560
072 7 _aHEA
_x039000
_2bisacsh
072 7 _aMED
_x014000
_2bisacsh
072 7 _aMED
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072 7 _aMED
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072 7 _aMED
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049 _aMAIN
245 0 0 _aCongenital neurotransmitter disorders :
_ba clinical approach
_c
_h[E-Book]
264 1 _aNew York :
_bNova Biomedical,
_c[2014]
300 _a1 online resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
490 1 _aNeuroscience research progress series
504 _aIncludes bibliographical references and index.
588 _aDescription based on print version record.
505 0 _aCONGENITAL 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 _aChapter 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 _aDopamine 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 _aTherapyL-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 _aManagementDiagnosis; 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 _aCongenital 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 _aMaster record variable field(s) change: 050
650 0 _aNeural transmission
_xDisorders.
650 0 _aNeural transmission
_xGenetic aspects.
700 1 _aHoffmann, Georg F.
_q(Georg Friedrich),
_eeditor.
700 1 _aBlau, N.
_q(Nenad),
_d1946-
_eeditor.
830 0 _aNeuroscience research progress series.
856 4 0 _uhttps://search.ebscohost.com/login.aspx?custid=ns123844&authtype=ip,shib&direct=true&scope=site&db=nlebk&db=nlabk&AN=886241
_yKingston Hospital NHS Foundation Trust OpenAthens account holders click here for access
938 _aYBP Library Services
_bYANK
_n12073399
938 _aEBSCOhost
_bEBSC
_n886241
938 _aebrary
_bEBRY
_nebr10964985
938 _aProQuest Ebook Central
_bEBLB
_nEBL2097143
942 _n0
994 _a92
_bN$T
999 _c92018
_d92018