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Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 675, doi. 10.3390/ijms22020675
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A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 190, doi. 10.1002/ajmg.a.36200
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- Article