tyrosinase/asthenia

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Muscle involvement in a case of oculocutaneous albinism.

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A 2-month-old girl with tyrosinase-positive oculocutaneous albinism (OCA) and severe muscle hypotonia is reported. She was admitted to our hospital because of poor sucking and poor weight gain. On physical examination she was found to have generalized muscle weakness and multiple anomalies including

Neuromelanin modulates heterocyclic aromatic amine-induced dopaminergic neurotoxicity.

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Heterocyclic aromatic amines (HAAs) are mutagens and potential human carcinogens. Our group and others have demonstrated that HAAs may also produce selective dopaminergic neurotoxicity, potentially relevant to Parkinson's disease (PD). The goal of this study was to elucidate mechanisms of

A Case of Oculocutaneous Albinism in a Patient with Hashimoto's Thyroiditis.

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Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder characterized by reduced or absent melanin synthesis. Its prevalence is approximately one in 17,000 individuals worldwide. OCA causes a complete or partial absence of pigment in the skin, hair, and eyes.

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