Publication: Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses
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Ferreira, C. R., Martinelli, D., & Blau, N. (2021). Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses. Molecular Genetics and Metabolism, 134(1–2), 87–95. https://doi.org/10.1016/j.ymgme.2021.07.005
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Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The principal manifestations can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal pigmentation, photosensitivity, skin laxity, hair shaft involvement, and nail abnormalities. We have summarized associations of these cutaneous signs and symptoms in 252 inherited metabolic diseases. This represents the sixth of a series of articles att
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- Ferreira, Carlos R
- Martinelli, Diego
- Blau, Nenad
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Ferreira, C. R., Martinelli, D., & Blau, N. (2021). Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses. Molecular Genetics and Metabolism, 134(1–2), 87–95. https://doi.org/10.1016/j.ymgme.2021.07.005