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disorders . Journal of Clinical Endocrinology and Metabolism 2011 96 333 – 343 . ( https://doi.org/10.1210/jc.2009-2304 ) 32 Loucks AB . The response of luteinizing hormone pulsatility to 5 days of low energy availability disappears by 14 years of
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the onset in early childhood of hyperphagia and an inability to self-regulate energy intake in line with energy expenditure (see review ( 9 )). If access to food is not controlled at this time and throughout life, hyperphagia results in life
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Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy
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) observed that patients with a PTPN11 mutation were significantly shorter and thinner at birth compared with patients with other mutations ( 9 ), supporting the hypothesis that NS-associated mutations may impact the regulation of energy metabolism. A
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
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John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
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Ambulatory Assessment (NSAA) and / or Performance of Upper Limb (PUL 2.0) Bone mineral adjusted density of the lumbar spine and total body (minus head) and body composition using dual-energy x-ray absorptiometry (DXA) Clinical assessment