作者: perjury 時(shí)間: 2025-3-22 00:13
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作者: laceration 時(shí)間: 2025-3-22 04:02
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作者: Urea508 時(shí)間: 2025-3-22 04:39 作者: Infect 時(shí)間: 2025-3-22 10:54
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作者: 咽下 時(shí)間: 2025-3-22 16:39
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.作者: Coma704 時(shí)間: 2025-3-22 19:00
,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 (.?
作者: 周年紀(jì)念日 時(shí)間: 2025-3-22 21:34
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作者: GRIN 時(shí)間: 2025-3-23 05:17
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作者: MIME 時(shí)間: 2025-3-23 05:49
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 作者: 諷刺滑稽戲劇 時(shí)間: 2025-3-23 11:47
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation oand Taiwan were analyzed for Hcy..: Met to Phe ratio was found to be more effective for first sieve than Met, sorting out nearly 90% of normal samples. Only 10% of the samples would have to be processed by second-tier measurement of Hcy in dried blood spots. As no patient with HCU was found neither 作者: Prostaglandins 時(shí)間: 2025-3-23 16:56 作者: 永久 時(shí)間: 2025-3-23 18:18 作者: 愛社交 時(shí)間: 2025-3-23 22:21 作者: 假設(shè) 時(shí)間: 2025-3-24 04:34 作者: 乳汁 時(shí)間: 2025-3-24 09:49 作者: 影響深遠(yuǎn) 時(shí)間: 2025-3-24 11:12
E. A. Kemper,A. Boelen,A. M. Bosch,M. van Veen-Sijne,C. N. van Rijswijk,M. J. Bouva,R. Fingerhut,P. and even controversial views, can be brought together to cover a broad range of interest with provocative discussion. Evolutionary Biology will provide research workers and students with an excep- tional opportunity to read expert presentations of developments in areas of their field in which they are not sp978-1-4615-6950-3作者: 凈禮 時(shí)間: 2025-3-24 18:29
Shohreh Khatami,Soghra Rouhi Dehnabeh,Sirous Zeinali,Beat Th?ny,Mohammadreza Alaei,Shadab Salehpour,he chromatin of chromosomes. These include both the histones, which are associated with the condensation of chromatin and nonspecific repression of DNA transcription (Arbuzova .., 1968), and a much larger and more diverse assemblage of acidic proteins that perform a variety of functions, including s作者: BLANK 時(shí)間: 2025-3-24 22:41
W. Todd Cade,Dominic N. Reeds,Linda R. Peterson,Kathryn L. Bohnert,Rachel A. Tinius,Paul B. Benni,Baere are many systematists who desire a classification that will faithfully depict phylogenetic pathways. Nevertheless, it is difficult to obtain a close correlation between classification and phylogenetic data that will satisfy all students of a particular group, but in order to make such an attempt作者: d-limonene 時(shí)間: 2025-3-25 02:23
Annely Richardson,Gerard T. Berry,Cheryl Garganta,Mary-Alice Abbottre soon followed by many others, covering a wide range of animal and plant species. These surveys showed that most species are highly polymorphic [see reviews by Powell (1975), Nevo (1978), A. H. D. Brown (1979), and Hamrick .. (1979)]. In the neutralist versus selectionist controversy the nature of作者: GRAZE 時(shí)間: 2025-3-25 03:33 作者: medieval 時(shí)間: 2025-3-25 10:04 作者: ANTI 時(shí)間: 2025-3-25 13:26 作者: 暴行 時(shí)間: 2025-3-25 15:54 作者: Clinch 時(shí)間: 2025-3-25 22:50
H. Blasco,C. Veyrat-Durebex,M. Bertrand,F. Patin,F. Labarthe,H. Henique,P. Emond,C. R. Andres,C. Ant作者: 無(wú)思維能力 時(shí)間: 2025-3-26 02:22 作者: 鞭子 時(shí)間: 2025-3-26 07:36 作者: 依法逮捕 時(shí)間: 2025-3-26 12:24 作者: 痛恨 時(shí)間: 2025-3-26 16:35 作者: HEAVY 時(shí)間: 2025-3-26 20:28
Friederike H?rster,Stefan K?lker,J. Gerard Loeber,Martina C. Cornel,Georg F. Hoffmann,Peter Burgard作者: Genteel 時(shí)間: 2025-3-26 23:26
Michael Nafisinia,Yiran Guo,Xiao Dang,Jiankang Li,Yulan Chen,Jianguo Zhang,Nicole J. Lake,Wendy A. G作者: Obscure 時(shí)間: 2025-3-27 03:08 作者: Extricate 時(shí)間: 2025-3-27 06:00
JIMD Reportshttp://image.papertrans.cn/j/image/500070.jpg作者: brother 時(shí)間: 2025-3-27 12:03
Book 2017JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.作者: Stagger 時(shí)間: 2025-3-27 14:32
https://doi.org/10.1007/978-3-662-54385-6inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic 作者: 剛毅 時(shí)間: 2025-3-27 19:40
978-3-662-54384-9SSIEM and Springer-Verlag Berlin Heidelberg 2017作者: CALL 時(shí)間: 2025-3-27 23:59 作者: 修正案 時(shí)間: 2025-3-28 02:24 作者: PANT 時(shí)間: 2025-3-28 08:33 作者: 奇思怪想 時(shí)間: 2025-3-28 11:24 作者: 敵意 時(shí)間: 2025-3-28 16:22 作者: STING 時(shí)間: 2025-3-28 20:22 作者: 沉積物 時(shí)間: 2025-3-28 23:12
Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitativeldhood experiences on adulthood is well documented amongst the general population, the aim of this study was to explore childhood experiences considered significant by women with PKU as they relate to adult experiences and management of PKU, and psychological wellbeing..: Eight women with PKU in Sou作者: membrane 時(shí)間: 2025-3-29 06:11
,The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease,o an extremely high burden of disease in affected patients and families. Although allopurinol therapy can control hyperuricemia, it has no effect on self-mutilation and neurological symptoms. Single reports describe a beneficial effect of S-adenosylmethionine (SAM) on the neurological symptoms, whic作者: recede 時(shí)間: 2025-3-29 10:48 作者: Conscientious 時(shí)間: 2025-3-29 14:11 作者: Constitution 時(shí)間: 2025-3-29 17:47 作者: persistence 時(shí)間: 2025-3-29 23:08
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation ocess of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening..: We reevaluated data from our newborn screening programme for Qatar in a total number of 125,047 neonates including 30 confirmed HCU patients. Our hitherto existing screening st作者: Pamphlet 時(shí)間: 2025-3-30 03:56 作者: 放氣 時(shí)間: 2025-3-30 07:38 作者: 冥界三河 時(shí)間: 2025-3-30 08:27 作者: Parameter 時(shí)間: 2025-3-30 14:48
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with of the neuropil followed by demyelination, gliosis and capillary proliferation caused by mutations in one of over 75 different genes, including nuclear- and mitochondrial-encoded genes, most of which are associated with mitochondrial respiratory chain function. In this study, we report a patient wit作者: homocysteine 時(shí)間: 2025-3-30 18:29 作者: 空氣 時(shí)間: 2025-3-30 21:53
E. A. Kemper,A. Boelen,A. M. Bosch,M. van Veen-Sijne,C. N. van Rijswijk,M. J. Bouva,R. Fingerhut,P. blow to the whole field of evolutionary biology in general, and to his friends and colleagues, including the other two Editors. He played a central role in the selection of areas that were "ripe" for review papers, and his circle of friends, colleagues, and students was so wide that he could always 作者: NEG 時(shí)間: 2025-3-31 03:08 作者: Inclement 時(shí)間: 2025-3-31 06:07
