標(biāo)題: Titlebook: JIMD Reports, Volume 21; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men [打印本頁] 作者: 突然 時(shí)間: 2025-3-21 18:35
書目名稱JIMD Reports, Volume 21影響因子(影響力)
作者: 不確定 時(shí)間: 2025-3-21 20:25
Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report,er 41 weeks of pregnancy, she gave birth to a healthy baby girl and was able to breastfeed her daughter for 6 months during which time, the protein and leucine intake were lower than during pregnancy, but higher than with her usual pre-pregnancy diet. The development of the girl is normal at the age of 3 years.作者: CROAK 時(shí)間: 2025-3-22 01:34 作者: 船員 時(shí)間: 2025-3-22 07:32 作者: ANNUL 時(shí)間: 2025-3-22 11:52
978-3-662-47171-5SSIEM and Springer-Verlag Berlin Heidelberg 2015作者: 積習(xí)難改 時(shí)間: 2025-3-22 15:53
JIMD Reports, Volume 21978-3-662-47172-2Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: escalate 時(shí)間: 2025-3-22 20:41
Johannes Zschocke,Matthias Baumgartner,Verena PeteUnique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed作者: nettle 時(shí)間: 2025-3-22 22:25 作者: PURG 時(shí)間: 2025-3-23 03:05 作者: 懶惰民族 時(shí)間: 2025-3-23 09:21 作者: SENT 時(shí)間: 2025-3-23 12:25
Jákup Andreas Thomsen,Allan Meldgaard Lund,Jess Have Olesen,Magni Mohr,Jan Rasmussen作者: Resistance 時(shí)間: 2025-3-23 15:19 作者: Hippocampus 時(shí)間: 2025-3-23 22:07 作者: GUMP 時(shí)間: 2025-3-23 23:39
Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB,-sulfated KS. The ratio of di-sulfated KS to total KS in plasma/serum increased with age in control subjects and patients with MPS II but was age independent in MPS IVA patients. Consequently, this ratio can discriminate younger MPS IVA patients from controls. Levels of mono- and di-sulfated KS in u作者: 慎重 時(shí)間: 2025-3-24 05:36 作者: 令人作嘔 時(shí)間: 2025-3-24 10:09 作者: Cerebrovascular 時(shí)間: 2025-3-24 12:59 作者: 躲債 時(shí)間: 2025-3-24 17:45 作者: Ataxia 時(shí)間: 2025-3-24 19:37
A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy,cy complications, Fabry symptoms during pregnancy, obstetrical history, and immediate neonatal history. In total, 41 affected women completed the survey. Results indicate several Fabry-related symptoms and features may worsen during pregnancy, including gastrointestinal symptoms, acroparesthesias, p作者: Induction 時(shí)間: 2025-3-25 00:14 作者: phase-2-enzyme 時(shí)間: 2025-3-25 04:53
Autophagy in Natural History and After ERT in Glycogenosis Type II,The functionality of the autophagy-lysosome system is essential in GSDII muscle, which is characterised by the presence of swollen glycogen-filled lysosomes and autophagic build-up. Defining the role of autophagy and its relationship with muscle loss is critical for understanding the disease pathoge作者: 凝視 時(shí)間: 2025-3-25 08:26 作者: ANNUL 時(shí)間: 2025-3-25 13:51
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar,a on Qatari patients...: Thirty-two cases with classical homocystinuria and 25 sibling controls were recruited to evaluate the neurodevelopmental and cognitive outcomes. We reviewed the subjects’ medical record and collected pertinent clinical and educational data from parents. Stanford–Binet Intell作者: 受辱 時(shí)間: 2025-3-25 17:28
Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients wi with PKU than in laboratory controls. n3LCPUFA levels correlated with estimated intake (. <0.002). Diet history had a positive predictive value of 93% and negative predictive value of 90% to identify subjects with suboptimal n3LCPUFA levels...: Diet history is sufficient to predict adult subjects w作者: 有幫助 時(shí)間: 2025-3-25 20:28
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to , Mutationcholangiopathy. Periportal copper accumulation has been implicated in causing secondary mitochondrial dysfunction; the impact of copper accumulation in patients with . mutations is unclear and warrants long-term clinical follow-up.作者: 食物 時(shí)間: 2025-3-26 00:42
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterol817delCTTTT or p.Pro558GlufsX14) and two known mutations (c.1306G>A or p.Arg389His and c.1336C>T or p.Arg446X), were identified. Significant reductions in cholesterol levels were obtained by means of weaning from breastfeeding alone. Substantial reductions in sitosterol levels, without any apparent 作者: Brocas-Area 時(shí)間: 2025-3-26 06:39 作者: aneurysm 時(shí)間: 2025-3-26 09:20
Corrado Angelini,Anna C. Nascimbeni,Marina Faninbook demonstrates how their success had a global influence on the genres and formats of science broadcasting used today..978-3-030-83045-8978-3-030-83043-4Series ISSN 2731-4359 Series E-ISSN 2731-4367 作者: EWER 時(shí)間: 2025-3-26 13:49
Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in , Gene in Ind作者: 一致性 時(shí)間: 2025-3-26 19:33 作者: granite 時(shí)間: 2025-3-27 00:39 作者: recede 時(shí)間: 2025-3-27 01:31
S. E. Waisbren,F. Rohr,V. Anastasoaie,M. Brown,D. Harris,A. Ozonoff,S. Petrides,A. Wessel,H. L. Levyhen investigators finally are able to relate them directly to underlying changes in genotype—to the genetic networks that through development give rise to the observed morphological, physiological, and behavioral traits (e.g., see Coffin et al., Chapter 3, section 5; Grothe et al., Chapter 10, secti作者: Reservation 時(shí)間: 2025-3-27 06:08
Susan E. Waisbren,Jianping He,Robert McCarter highly modified of sarcopterygian braincases with consolidated fore and aft portions and reduction or loss of the hyomandibula. The utricle was enlarged in several fossil dipnoans, although the reason for this is not clear. The braincases of tetrapodomorph sarcopterygians differed little from the p作者: 玩忽職守 時(shí)間: 2025-3-27 13:01 作者: 或者發(fā)神韻 時(shí)間: 2025-3-27 13:51 作者: 人造 時(shí)間: 2025-3-27 17:59
T. Bosdet,J. Branov,C. Selvage,M. Yousefi,S. Sirrsehrer Tag ein, Tag aus vor den selben Zuh?rern etwas Verschiedenes bringen mu? (und hoffentlich Spannendes). Manchmal hinterlassen die unm?glichsten Dinge den gr??ten Eindruck im Kopf der Zuh?rer. Ich machte diese Er- fahrung, als ich die allererste Vorlesung in Princeton vor Erstsemester- studenten作者: 舊石器時(shí)代 時(shí)間: 2025-3-27 23:46
Stefanie Heiber,Henryk Zulewski,Marianne Zaugg,Caroline Kiss,Matthias Baumgartnerehrer Tag ein, Tag aus vor den selben Zuh?rern etwas Verschiedenes bringen mu? (und hoffentlich Spannendes). Manchmal hinterlassen die unm?glichsten Dinge den gr??ten Eindruck im Kopf der Zuh?rer. Ich machte diese Er- fahrung, als ich die allererste Vorlesung in Princeton vor Erstsemester- studenten作者: Adjourn 時(shí)間: 2025-3-28 03:38 作者: Galactogogue 時(shí)間: 2025-3-28 06:46
Hayato Tada,Masa-aki Kawashiri,Mutsuko Takata,Kunihiro Matsunami,Atsushi Imamura,Misayo Matsuyama,Hiehrer Tag ein, Tag aus vor den selben Zuh?rern etwas Verschiedenes bringen mu? (und hoffentlich Spannendes). Manchmal hinterlassen die unm?glichsten Dinge den gr??ten Eindruck im Kopf der Zuh?rer. Ich machte diese Er- fahrung, als ich die allererste Vorlesung in Princeton vor Erstsemester- studenten作者: 同謀 時(shí)間: 2025-3-28 14:10 作者: 顧客 時(shí)間: 2025-3-28 16:27 作者: largesse 時(shí)間: 2025-3-28 20:38 作者: 政府 時(shí)間: 2025-3-29 00:59
S. E. Waisbren,F. Rohr,V. Anastasoaie,M. Brown,D. Harris,A. Ozonoff,S. Petrides,A. Wessel,H. L. Levyt is natural for them to assume that observed phenotypic traits have been sculpted by evolution and therefore, somehow, have increased the fitnesses of the organisms in which they occur. Inferences about the pathways of evolution typically are drawn from formal or informal cladograms (Manley and Cla作者: 提升 時(shí)間: 2025-3-29 04:46
Susan E. Waisbren,Jianping He,Robert McCarterir otic regions were constructed similarly to those of both the actinopterygians and chondrichthyans, their structure being the common inheritance of all jawed vertebrates. One distinguishing feature of the primitive sarcopterygian braincase was that the division between the anterior ethmosphenoid a作者: daredevil 時(shí)間: 2025-3-29 08:07 作者: perpetual 時(shí)間: 2025-3-29 12:56
Alexandrea Holmes,Dawn Laneyailable systems, however, face a major challenge. On todays global information infrastructure, data semantics is more and more context- and time-dependent, and cannot be fixed once and for all at design time. Identifying emerging relationships among previously unrelated information items (e.g., duri作者: thwart 時(shí)間: 2025-3-29 19:24 作者: NIP 時(shí)間: 2025-3-29 20:04 作者: AV-node 時(shí)間: 2025-3-30 00:08
T. Bosdet,J. Branov,C. Selvage,M. Yousefi,S. Sirrsl den professoralen Jahren ist es mir fast unm?glich, die Hauptbe- sch?ftigung meines Lebens zu verbergen. Seit über vierzig Jahren habe ich den Kursus "allgemeine Biologie" für Anf?nger und Fortgeschrittene Eines Tages besuchte mich eine an der Universit?t Princeton gelehrt. Soziologiestudentin und作者: TEN 時(shí)間: 2025-3-30 06:09 作者: AMEND 時(shí)間: 2025-3-30 09:11 作者: 南極 時(shí)間: 2025-3-30 14:18 作者: 對待 時(shí)間: 2025-3-30 19:54
Hannaneh Foroozani,Maryam Abiri,Shadab Salehpour,Hamideh Bagherian,Zohreh Sharifi,Mohammad Reza Alael den professoralen Jahren ist es mir fast unm?glich, die Hauptbe- sch?ftigung meines Lebens zu verbergen. Seit über vierzig Jahren habe ich den Kursus "allgemeine Biologie" für Anf?nger und Fortgeschrittene Eines Tages besuchte mich eine an der Universit?t Princeton gelehrt. Soziologiestudentin und作者: paleolithic 時(shí)間: 2025-3-30 22:09 作者: Psa617 時(shí)間: 2025-3-31 02:16
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in CanadCentres. We sought to understand the system of care for paediatric IMD patients in Canada in order to identify sources of variation and inform future research priorities...: Treatment centres were contacted by email and invited to complete a web-based survey. The questionnaire addressed, for each ce作者: Palpate 時(shí)間: 2025-3-31 06:59 作者: 小鹿 時(shí)間: 2025-3-31 09:30
Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Asschological evaluations. This study examined the validity of using the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for assessing developmental status in metabolic disorders and for identifying individuals at risk for c作者: electrolyte 時(shí)間: 2025-3-31 13:37
