Literature DB >> 19455403

Neuroimaging findings in children with paediatric neurotransmitter diseases.

Wang-Tso Lee1, Wen-Chin Weng, Shinn-Forng Peng, Kai-Yuan Tzen.   

Abstract

Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to gamma-amino butyric acid (GABA) metabolism, monoamine biosynthesis, etc. The diagnosis of paediatric neurotransmitter diseases remain a great challenge for paediatricians and child neurologists. In addition to clinical manifestations and CSF neurotransmitter measurement, neuroimaging findings can also be very informative for the diagnosis and evaluation of the patients. For patients with monoamine biosynthesis disorders, the functional evaluation of dopaminergic transmission also plays an important role. Understanding of the possible neuroimaging changes in paediatric neurotransmitter diseases is therefore of great value for the investigation of these patients.

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Year:  2009        PMID： 19455403     DOI： 10.1007/s10545-009-1106-z

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  57 in total

1.  Vesicular accumulation of dopamine following L-DOPA administration.

Authors:  N T Buu
Journal:  Biochem Pharmacol       Date:  1989-06-01       Impact factor: 5.858

2.  Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.

Authors:  P DE Lonlay; M C Nassogne; A H van Gennip; A C van Cruchten; T Billatte de Villemeur; M Cretz; C Stoll; J M Launay; G C Steenberger-Spante; L P van den Heuvel; R A Wevers; J M Saudubray; N G Abeling
Journal:  J Inherit Metab Dis       Date:  2000-12       Impact factor: 4.982

3.  Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

Authors:  A Schiller; R A Wevers; G C H Steenbergen; N Blau; H H Jung
Journal:  Neurology       Date:  2004-10-26       Impact factor: 9.910

4.  The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

Authors:  K M Gibson; E Christensen; C Jakobs; B Fowler; M A Clarke; G Hammersen; K Raab; J Kobori; A Moosa; B Vollmer; E Rossier; A K Iafolla; D Matern; O F Brouwer; J Finkelstein; F Aksu; H P Weber; J A Bakkeren; F J Gabreels; D Bluestone; T F Barron; P Beauvais; D Rabier; C Santos; W Lehnert
Journal:  Pediatrics       Date:  1997-04       Impact factor: 7.124

5.  Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease.

Authors:  M A Al-Essa; S M Bakheet; Z J Patay; J E Powe; P T Ozand
Journal:  Brain Dev       Date:  2000-03       Impact factor: 1.961

6.  Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.

Authors:  K J Swoboda; K Hyland; D S Goldstein; K C Kuban; L A Arnold; C S Holmes; H L Levy
Journal:  Neurology       Date:  1999-10-12       Impact factor: 9.910

7.  How useful is [123I]beta-CIT SPECT in clinical practice?

Authors:  J Eerola; P J Tienari; S Kaakkola; P Nikkinen; J Launes
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-09       Impact factor: 10.154

8.  Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development.

Authors:  Q Y Zhou; C J Quaife; R D Palmiter
Journal:  Nature       Date:  1995-04-13       Impact factor: 49.962

9.  Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

Authors:  P L Pearl; K M Gibson; M T Acosta; L G Vezina; W H Theodore; M A Rogawski; E J Novotny; A Gropman; J A Conry; G T Berry; M Tuchman
Journal:  Neurology       Date:  2003-05-13       Impact factor: 9.910

Review 10.  Clinical aspects of the disorders of GABA metabolism in children.

Authors:  Phillip L Pearl; K Michael Gibson
Journal:  Curr Opin Neurol       Date:  2004-04       Impact factor: 5.710
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  6 in total

1.  Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.

Authors:  Yoshiaki Furukawa; Stephen J Kish
Journal:  Brain       Date:  2014-11-21       Impact factor: 13.501

2.  Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency.

Authors:  Wang-Tso Lee; Jui-Hsiang Lin; Wen-Chin Weng; Steven Shinn-Forng Peng
Journal:  Hum Brain Mapp       Date:  2016-11-17       Impact factor: 5.038

Review 3.  Parkinsonism and inborn errors of metabolism.

Authors:  A Garcia-Cazorla; S T Duarte
Journal:  J Inherit Metab Dis       Date:  2014-06-07       Impact factor: 4.982

Review 4.  A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review.

Authors:  Kevin Y Wang; Peter B Barker; Doris D M Lin
Journal:  Childs Nerv Syst       Date:  2015-10-24       Impact factor: 1.475

5.  Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.

Authors:  Malak Ali Alghamdi; Waleed H Alkhamis; Dima Z Jamjoom; Reem Al Khalifah; Nawaf Rahi Alshammari; Khalid Alsumaili; Stefan T Arold
Journal:  Clin Case Rep       Date:  2020-11-11

6.  Aromatic L-amino acid decarboxylase (AADC) is crucial for brain development and motor functions.

Authors:  De-Fen Shih; Chung-Der Hsiao; Ming-Yuan Min; Wen-Sung Lai; Chianne-Wen Yang; Wang-Tso Lee; Shyh-Jye Lee
Journal:  PLoS One       Date:  2013-08-05       Impact factor: 3.240
  6 in total

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