Titlebook: JIMD Reports, Volume 17; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag Berlin Heidelberg 2014 Mend

領(lǐng)口

書目名稱JIMD Reports, Volume 17影響因子(影響力)




書目名稱JIMD Reports, Volume 17影響因子(影響力)學(xué)科排名




書目名稱JIMD Reports, Volume 17網(wǎng)絡(luò)公開度




書目名稱JIMD Reports, Volume 17網(wǎng)絡(luò)公開度學(xué)科排名




書目名稱JIMD Reports, Volume 17被引頻次




書目名稱JIMD Reports, Volume 17被引頻次學(xué)科排名




書目名稱JIMD Reports, Volume 17年度引用




書目名稱JIMD Reports, Volume 17年度引用學(xué)科排名




書目名稱JIMD Reports, Volume 17讀者反饋




書目名稱JIMD Reports, Volume 17讀者反饋學(xué)科排名

浪蕩子

A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extendingand extending to a large region located distally to it described in a severe Hunter patient, as evidenced by the CNVs databases interrogated. The analysis of the genes involved in the rearrangement and of the disorders correlated with them did not help to clarify the phenotype observed in our patien

spinal-stenosis

Kidney-Failure

chlorosis

The Complexity of Newborn Screening Follow-Up in Phenylketonuria,R revealed c.1A>T nucleotide substitution in exon 3 expressed as “p.MET1?” Phenylalanine hydroxylase (PAH) gene sequencing revealed compound heterozygosity for L249F and A300S. Although initial testing suggested the child was affected with DHPR deficiency, further analysis, finding increasing levels

相反放置

Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia,update of the 2007 recommendations. In this current approach, we advise comprehensive dietary evaluation, optimization of calcium intake if needed, monitoring and if necessary supplementation of vitamin D, hormonal status evaluation and hormone replacement therapy (HRT) consideration, as well as a r

exophthalmos

m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening,en diagnosed with cerebral palsy, was concurrently diagnosed with neuropathy, ataxia, and retinitis pigmentosa (NARP) due to heteroplasmy of the same mutation. She had progressive muscle weakness, ataxia, and speech dyspraxia. The m.8993T>G mutation causes mitochondrial ATP synthase deficiency and i

SOB

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Secti0% of Pompe patients used loperamide daily against diarrhoea. No other gastrointestinal tract-related symptoms were reported to occur more frequently in Pompe patients than in controls...: Compared to age- and gender-matched controls, both urinary and bowel incontinence occur in a higher frequency i

詞匯記憶方法

interference