Titlebook: JIMD Reports, Volume 32; Eva Morava (Editor-in-Chief),Matthias Baumgartner, Book 2017 SSIEM and Springer-Verlag Berlin Heidelberg 2017 inh

Harding

书目名称JIMD Reports, Volume 32影响因子(影响力)




书目名称JIMD Reports, Volume 32影响因子(影响力)学科排名




书目名称JIMD Reports, Volume 32网络公开度




书目名称JIMD Reports, Volume 32网络公开度学科排名




书目名称JIMD Reports, Volume 32被引频次




书目名称JIMD Reports, Volume 32被引频次学科排名




书目名称JIMD Reports, Volume 32年度引用




书目名称JIMD Reports, Volume 32年度引用学科排名




书目名称JIMD Reports, Volume 32读者反馈




书目名称JIMD Reports, Volume 32读者反馈学科排名

perjury

Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients,otometry. Differential diagnosis was conducted for PKU, transient HPA, and BH. deficiencies..Our results indicated that out of 76 cases involving BH. deficiencies, 37 had 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, 35 had DHPR deficiency, 1 case had pterin-4a-carbinolamine dehydratase (P

laceration

Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study,ercise testing or training for any participant. Peak oxygen consumption modestly (~5%) improved in three or four participants. Mean quality of life questions regarding dyspnea and side effects from medications significantly improved following exercise training. Mean resting heart function or skeleta

Urea508

Infect

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcristic (ROC) curves were calculated based on samples of the whole patient population.. Concentrations of C0 in plasma were normal in all CPT-IA deficient patient samples. ROC analyses showed highest diagnostic values for C18:0-ac, C18:1-ac, and ∑lc-ac (AUC 1.000) and lowest for C0 (AUC 0.738). Combi

咽下

Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitativehood factors have a combined, long-term impact. These findings have significant clinical implications, suggesting that early psychosocial intervention relating to these identified childhood experiences has the potential to enhance positive outcomes for adults with PKU.

Coma704

,The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease,total of 1,762 events of self-mutilation were recorded, of which 1,281 events were in the placebo period and 481 in the verum period. The daily mean of events was 8.6 with placebo and 4.5 with SAM corresponding to a 50 % decrease in self-mutilation events under SAM treatment (. < 0.05)..: The result

周年纪念日

Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Co 4.5 h and the daily protein intake. Dependant variables were the amino acid concentrations. The combined effect was calculated with the natural logarithm of the amino acid concentration..: Most amino acids fitted a significant exponential decrease due to the sampling delay, except of aspartate, ci

GRIN

A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine iabolic pattern from 118 metabolites and we built excellent multivariate models to explain Phe, Tyr concentrations and PKU diagnosis. Common metabolites of these models were identified: Gln, Arg, succinate and alpha aminobutyric acid. Univariate analysis showed an inverse correlation between Arg, alp

MIME

Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) was not elevated. HSD10 disease was suspected based on urinary organic acid data. The patient had a novel hemizygous c.470C>T (p.A157V) mutation in the . gene. His mother was a heterozygous carrier of this mutation. The patient’s older brother also had the c.470C>T (p.A157V) mutation. Neurological