Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters

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Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression.

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Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

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Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

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UFMylation of SHBs increases protein stability by antagonizing ubiquitination and promotes virion production.

Journal of virology·2026

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Medical education·2026

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Novel mTORC1 Booster LAPTM4A Potentiates Pathological Cardiac Hypertrophy.

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Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters

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Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters

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