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Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
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- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.516799
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- Article
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3831, doi. 10.1002/ajmg.a.62426
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- Article