Harding
发表于 2025-3-21 17:15:35
书目名称JIMD Reports, Volume 32影响因子(影响力)<br> http://figure.impactfactor.cn/if/?ISSN=BK0500070<br><br> <br><br>书目名称JIMD Reports, Volume 32影响因子(影响力)学科排名<br> http://figure.impactfactor.cn/ifr/?ISSN=BK0500070<br><br> <br><br>书目名称JIMD Reports, Volume 32网络公开度<br> http://figure.impactfactor.cn/at/?ISSN=BK0500070<br><br> <br><br>书目名称JIMD Reports, Volume 32网络公开度学科排名<br> http://figure.impactfactor.cn/atr/?ISSN=BK0500070<br><br> <br><br>书目名称JIMD Reports, Volume 32被引频次<br> http://figure.impactfactor.cn/tc/?ISSN=BK0500070<br><br> <br><br>书目名称JIMD Reports, Volume 32被引频次学科排名<br> http://figure.impactfactor.cn/tcr/?ISSN=BK0500070<br><br> <br><br>书目名称JIMD Reports, Volume 32年度引用<br> http://figure.impactfactor.cn/ii/?ISSN=BK0500070<br><br> <br><br>书目名称JIMD Reports, Volume 32年度引用学科排名<br> http://figure.impactfactor.cn/iir/?ISSN=BK0500070<br><br> <br><br>书目名称JIMD Reports, Volume 32读者反馈<br> http://figure.impactfactor.cn/5y/?ISSN=BK0500070<br><br> <br><br>书目名称JIMD Reports, Volume 32读者反馈学科排名<br> http://figure.impactfactor.cn/5yr/?ISSN=BK0500070<br><br> <br><br>
perjury
发表于 2025-3-22 00:13:26
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
发表于 2025-3-22 04:02:19
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
发表于 2025-3-22 04:39:44
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Infect
发表于 2025-3-22 10:54:51
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
发表于 2025-3-22 16:39:34
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
发表于 2025-3-22 19:00:52
,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
发表于 2025-3-22 21:34:01
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
发表于 2025-3-23 05:17:15
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
发表于 2025-3-23 05:49:27
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