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| Descriptor English: | Barth Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Barth
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| Descriptor Portuguese: | Síndrome de Barth | ||||||
| Descriptor French: | Syndrome de Barth | ||||||
| Entry term(s): |
Acidurie 3-méthylglutaconique de type 2 Acidurie 3-méthylglutaconique de type II Myopathie cardiosquelettique-neutropénie |
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| Tree number(s): |
C14.240.400.172 C14.280.400.172 C16.131.077.121 C16.131.240.400.172 C16.320.322.068 C16.320.565.398.224 C18.452.584.563.224 C18.452.648.398.224 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D056889 | ||||||
| Scope note: | Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist. |
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| Allowable Qualifiers: |
BL sang CF liquide cérébrospinal CI induit chimiquement CL classification CO complications DG imagerie diagnostique DH diétothérapie DI diagnostic DT traitement médicamenteux EC économie EH ethnologie EM embryologie EN enzymologie EP épidémiologie ET étiologie GE génétique HI histoire IM immunologie ME métabolisme MI microbiologie MO mortalité NU soins infirmiers PA anatomopathologie PC prévention et contrôle PP physiopathologie PS parasitologie PX psychologie RH rééducation et réadaptation RT radiothérapie SU chirurgie TH thérapie UR urine VE médecine vétérinaire VI virologie |
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| Related: |
Non-compaction isolée du ventricule
MeSH | ||||||
| DeCS ID: | 53535 | ||||||
| Unique ID: | D056889 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2010/01/01 | ||||||
| Date of Entry: | 2009/07/06 | ||||||
| Revision Date: | 2012/07/03 |
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Syndrome de Barth
- Preferred
| Concept UI |
M0529363 |
| Preferred term | Syndrome de Barth |
| Entry term(s) |
Acidurie 3-méthylglutaconique de type 2 Acidurie 3-méthylglutaconique de type II Myopathie cardiosquelettique-neutropénie |
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