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

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书目名称JIMD Reports, Volume 17影响因子(影响力)




书目名称JIMD Reports, Volume 17影响因子(影响力)学科排名




书目名称JIMD Reports, Volume 17网络公开度




书目名称JIMD Reports, Volume 17网络公开度学科排名




书目名称JIMD Reports, Volume 17被引频次




书目名称JIMD Reports, Volume 17被引频次学科排名




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书目名称JIMD Reports, Volume 17年度引用学科排名




书目名称JIMD Reports, Volume 17读者反馈




书目名称JIMD Reports, Volume 17读者反馈学科排名

浪荡子

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

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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

词汇记忆方法

interference