Search Results - "Jones, H.Royden"

Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis by Darras, Basil T, Jones, H.Royden

“…Extraordinary breakthroughs in the molecular pathogenesis of muscle and nerve disease have resulted in an evolving genetic classification of neuromuscular…”
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Neuromuscular problems of the critically ill neonate and child by Darras, Basil T, Jones, H.Royden

“…This review presents insights gained over 24 years of clinical and laboratory evaluations of children, newborn to 18 years of age, who present with acute…”
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Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet by Swoboda, Kathryn J., Specht, Linda, Jones, H.Royden, Shapiro, Frederic, DiMauro, Salvatore, Korson, Mark

“…We report a 2-year-old boy with phosphofructokinase deficiency presenting in the newborn period with congenital arthrogryposis and severe myopathy, who has had…”
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Characteristics of myosin in nemaline myopathy by Sreter, F A, Aström, K E, Romanul, F C, Young, R R, Jones, Jr, H R

“…Electron-microscopic, morphometric, histochemical and biochemical studies were carried out on muscle biopsies from a patient with the characteristic clinical…”
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