Titlebook: JIMD Reports, Volume 15; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 endo

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書目名稱JIMD Reports, Volume 15影響因子(影響力)




書目名稱JIMD Reports, Volume 15影響因子(影響力)學(xué)科排名




書目名稱JIMD Reports, Volume 15網(wǎng)絡(luò)公開度




書目名稱JIMD Reports, Volume 15網(wǎng)絡(luò)公開度學(xué)科排名




書目名稱JIMD Reports, Volume 15被引頻次




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書目名稱JIMD Reports, Volume 15讀者反饋




書目名稱JIMD Reports, Volume 15讀者反饋學(xué)科排名

膽小懦夫

Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood,c/dystonic attacks and permanent neurologic deficits. Attacks tend to persist through life. Flunarizine therapy occasionally reduces the severity, duration and frequency of attacks. A ketogenic diet/modified Atkins diet (KD/MAD) can attenuate paroxysmal movement disorders associated with GLUT1 defic

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FISC

Mortality in Patients with Morquio Syndrome A,ctivity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age...: To better understand the natural progression of the disease, life expectancy and common causes of death, death certificates were evaluated for

Ossification

maverick

Common and Novel , Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopent generated by the mitochondrial respiratory chain. In addition to maternally transmitted cV dysfunction caused by mutations in mtDNA genes (. or .), encoding cV subunits, recessive mutations in the nuclear . are the most frequent cause of ATP synthase deficiency..We report on a cohort of ten Ital

jettison

Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking e added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic galactosemia have been identified by NBS. Most of these infants were spared the trauma of acute disease by early diagnosis and intervention, and many are alive today because of NBS. Newborn screening fo