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Besides, a piece of news published about the study showed that the treatment failed to improve the patients difficulties compared to the sham group [82]

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described a patient with a novel BCS1L mutation who had slower disease progression, presenting with myopathy, focal motor seizures, and optic nerve atrophy (88)

J Pediatr 142:539545 Hokken-Koelega AC, Mulder P, De Jong R, Lilien M, Donckerwolcke R, Groothof J (2000) Long-term effects of growth hormone treatment on growth and puberty in patients with chronic renal insufficiency