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Pulmonary Manifestations in a Patient with Transaldolase Deficiency
Transaldolase deficiency is a newly recognized metabolic disorder. It is an autosomal recessive genetic disease (OMIM #606003). The effects of the defect in the TALDO gene are pleiotropic with a clinical presentation of growth retardation, dysmorphic features, cutis laxa, congenital heart disease, h...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer International Publishing
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3897798/ https://ncbi.nlm.nih.gov/pubmed/23846909 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_243 |
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