Titlebook: JIMD Reports, Volume 41; Focus Issue: Adults Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Error

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書目名稱JIMD Reports, Volume 41被引頻次學科排名




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書目名稱JIMD Reports, Volume 41年度引用學科排名




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書目名稱JIMD Reports, Volume 41讀者反饋學科排名

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,Haematopoietic Stem Cell Transplantation Arrests the?Progression of Neurodegenerative Disease in Laretains full donor engraftment, and his white cell beta-HexA of 191?nmol/mg/h is comparable to normal controls (in-assay control?=?187). He continues to experience some intentional tremor that is tolerable for daily life and nonprogressive since HSCT..: HSCT is a potential treatment option which mig

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Friction

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1,n 7 and p.(Arg402Trp), c.1204C.T in exon 11 mutations of the ...Her pregnancy at the age of 23 was complicated by pre-eclampsia and required treatment with beta-blockers. Four years later the second pregnancy was uncomplicated. The management plan during the caesarean section included intravenous de

Aspiration

The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients,t problems, pain, disability, and quality of life. Joint pain and swelling were reported by 43% of male and 39% of female Fabry patients. Analysis by age group showed higher prevalence of joint problems and decreased quality of life, in terms of mobility, activity, pain, and anxiety, in Fabry patien

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隱語

Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot 3 sessions/week). All testing was repeated post-RET..: BTHS had lower strength and lean muscle mass compared to Controls (all .?

stress-response

,Cognitive Impairments and Subjective Cognitive Complaints?in Fabry Disease: A Nationwide Study and?d the highest frequency of impairment. In general, disease related variables as Mainz Severity Score Index, enzyme activity and years since onset and depression did not have a significant impact on the categorisation of patients as being cognitively impaired or non-impaired. Thus, cognitive impairme

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