標題: Titlebook: JIMD Reports, Volume 29; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite [打印本頁] 作者: cerebellum 時間: 2025-3-21 18:23
書目名稱JIMD Reports, Volume 29影響因子(影響力)
書目名稱JIMD Reports, Volume 29影響因子(影響力)學科排名
書目名稱JIMD Reports, Volume 29網(wǎng)絡(luò)公開度
書目名稱JIMD Reports, Volume 29網(wǎng)絡(luò)公開度學科排名
書目名稱JIMD Reports, Volume 29被引頻次
書目名稱JIMD Reports, Volume 29被引頻次學科排名
書目名稱JIMD Reports, Volume 29年度引用
書目名稱JIMD Reports, Volume 29年度引用學科排名
書目名稱JIMD Reports, Volume 29讀者反饋
書目名稱JIMD Reports, Volume 29讀者反饋學科排名
作者: 緯線 時間: 2025-3-21 20:21 作者: 阻礙 時間: 2025-3-22 03:36 作者: 大猩猩 時間: 2025-3-22 07:47
Juliette Bouchereau,Sandrine Vuillaumier Barrot,Thierry Dupré,Stuart E. H. Moore,Ruxandra Cardas,Yli作者: 哄騙 時間: 2025-3-22 12:27
daptive forces involved? These questions began to be addressed when the sequences of various tRNAs and bacterial viruses became available in the 1970s. It became evident that nucleic acid structure (“flaps”) is a form of information that has the potential to conflict with other forms.作者: Encapsulate 時間: 2025-3-22 15:18
Erland Arning,Teodoro Bottiglieridaptive forces involved? These questions began to be addressed when the sequences of various tRNAs and bacterial viruses became available in the 1970s. It became evident that nucleic acid structure (“flaps”) is a form of information that has the potential to conflict with other forms.作者: Benzodiazepines 時間: 2025-3-22 20:46
C. Nicolas,N. Bednarek,V. Vuiblet,O. Boyer,A. Brassier,P. De Lonlay,L. Galmiche,P. Krug,V. Baudouin,daptive forces involved? These questions began to be addressed when the sequences of various tRNAs and bacterial viruses became available in the 1970s. It became evident that nucleic acid structure (“flaps”) is a form of information that has the potential to conflict with other forms.作者: Pamphlet 時間: 2025-3-22 21:44
Jenny Bellerose,Mathilde Neugnot-Cerioli,Karine Bédard,Catherine Brunel-Guitton,Grant A. Mitchell,Ludaptive forces involved? These questions began to be addressed when the sequences of various tRNAs and bacterial viruses became available in the 1970s. It became evident that nucleic acid structure (“flaps”) is a form of information that has the potential to conflict with other forms.作者: 生來 時間: 2025-3-23 05:25
Shanti Balasubramaniam,Barry Lewis,Lawrence Greed,David Meili,Annegret Flier,Raina Yamamoto,Karmen Bdaptive forces involved? These questions began to be addressed when the sequences of various tRNAs and bacterial viruses became available in the 1970s. It became evident that nucleic acid structure (“flaps”) is a form of information that has the potential to conflict with other forms.作者: Obloquy 時間: 2025-3-23 08:58 作者: 規(guī)范要多 時間: 2025-3-23 13:14 作者: Monocle 時間: 2025-3-23 15:25
Denise Rotta Ruttkay Pereira,Claudia Schweiger,Carolina F. de Souza,Simone Fagondes,Denise Manica,Roy located but differ greatly in their mutation acceptance rates. Thus, each gene is an independent mutational entity. Synonymous mutations, and correlated mutations in regions that do not encode amino acids, may be important for changing the ‘pattern’ of a genome, so sparking the onset of branching 作者: 過時 時間: 2025-3-23 20:11
Helen Beard,Sofia Hassiotis,Amanda J. Luck,Tina Rozaklis,John J. Hopwood,Kim M. Hemsleythese purposes. Purine-loading pressure would have supported protein-pressure in provoking the splitting into introns of what might otherwise have been large exons. From this perspective we can understand why the genes of the malaria parasite are extraordinarily long, and we can identify the potenti作者: 經(jīng)典 時間: 2025-3-24 01:21
Ulrike Schueler,Christine Kaneski,Alan Remaley,Stephen Demosky,Nancy Dwyer,Joan Blanchette-Mackie,Joetween symbols (letters, bases). In DNA this finds expression as Chargaff’s second parity rule (PR2), namely Chargaff’s first parity rule for duplex DNA (PR1) also applies, to a close approximation, to single-stranded DNA. Selective forces generating the PR2 equivalences may have acted at higher oli作者: 體貼 時間: 2025-3-24 05:02
Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway作者: linguistics 時間: 2025-3-24 09:56
Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Aci作者: 解脫 時間: 2025-3-24 11:06 作者: legacy 時間: 2025-3-24 16:38 作者: 懸崖 時間: 2025-3-24 20:47
A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect,ment. This study underscores the importance of conducting in-depth neuropsychological assessments in individuals with cblC, the results of which may be particularly helpful for clinical management, guidance toward rehabilitation services, and educational/vocational planning.作者: Incommensurate 時間: 2025-3-25 01:42
Heterozygous Monocarboxylate Transporter 1 (MCT1, ,) Deficiency as a Cause of Recurrent Ketoacidosi8Ter) was detected in both boys. It was shared by their healthy mother and by the proband’s half-sister, but was absent in the proband’s father. MCT1 deficiency may be more prevalent than is apparent, as clinical manifestations can occur both in individuals with bi- and monoallelic mutations. It may作者: Juvenile 時間: 2025-3-25 03:50
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia,tations, were detected in a homozygous state except for two compound heterozygous cases. The six novel mutations identified herein consist of three nonsense, two missense and one frameshift, distributed throughout the whole protein. This study describes for the first time the clinical and mutational作者: 情感脆弱 時間: 2025-3-25 07:58
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome,ity of the mitochondrial respiratory chain enzymes was normal..Our data from GLUT1 deficiency patients and from GLUT1 model mice fail to support CoQ. deficiency as a common finding in GLUT1 deficiency, suggesting that CoQ deficiency is not a direct biochemical consequence of defective glucose transp作者: neologism 時間: 2025-3-25 14:20 作者: Apoptosis 時間: 2025-3-25 18:32
Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliore replaced at 8 weeks of age. Additional MPS IIIA mice received intra-cisternal bolus infusions of the same amount of rhSGSH (or vehicle), at 6 and 8 weeks of age. Unaffected mice received vehicle via each strategy. All mice were euthanised at 10 weeks of age and the brain was harvested to assess t作者: 知識分子 時間: 2025-3-25 22:49
A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramie used 5AP and HDL to remove cholesterol from Fabry fibroblasts to examine the fate of accumulated cellular Gb3. Using immunostaining techniques, we found that 5AP is highly effective for depleting cholesterol and Gb3 in these cells. 5AP restores the ApoA-1-mediated cholesterol efflux leading to mob作者: Prophylaxis 時間: 2025-3-26 00:13 作者: 懶洋洋 時間: 2025-3-26 05:46 作者: hypnogram 時間: 2025-3-26 08:55 作者: 口訣 時間: 2025-3-26 16:39
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurlerization. Quality of life, as reported by parents, fell more than two standard deviations below population norms for physical functioning; however, psychosocial quality of life (emotional well-being) approximated population norms. In linear regression analysis, adjusted for demographic and treatment 作者: 增長 時間: 2025-3-26 17:54 作者: 乏味 時間: 2025-3-26 22:29
Eva Morava,Matthias Baumgartner,Verena PetersUnique 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: 諷刺滑稽戲劇 時間: 2025-3-27 04:59 作者: Palatial 時間: 2025-3-27 05:55
Book 2016JIMD 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: SLAY 時間: 2025-3-27 10:06 作者: 整頓 時間: 2025-3-27 16:54 作者: 間接 時間: 2025-3-27 18:46 作者: 氣候 時間: 2025-3-27 22:15 作者: 希望 時間: 2025-3-28 03:47
Erland Arning,Teodoro Bottiglieristrand it adopts a secondary structure. Chargaff’s first parity rule for duplex DNA was consistent with the Watson-Crick idea of a base in one strand of the duplex pairing with a complementary base in the other strand of the duplex (.strand base pairing), thus stabilizing the secondary structure (Fi作者: Scintigraphy 時間: 2025-3-28 09:32
C. Nicolas,N. Bednarek,V. Vuiblet,O. Boyer,A. Brassier,P. De Lonlay,L. Galmiche,P. Krug,V. Baudouin,strand it adopts a secondary structure. Chargaff’s first parity rule for duplex DNA was consistent with the Watson-Crick idea of a base in one strand of the duplex pairing with a complementary base in the other strand of the duplex (.strand base pairing), thus stabilizing the secondary structure (Fi作者: Liability 時間: 2025-3-28 14:22 作者: 意外 時間: 2025-3-28 17:41
Shanti Balasubramaniam,Barry Lewis,Lawrence Greed,David Meili,Annegret Flier,Raina Yamamoto,Karmen Bstrand it adopts a secondary structure. Chargaff’s first parity rule for duplex DNA was consistent with the Watson-Crick idea of a base in one strand of the duplex pairing with a complementary base in the other strand of the duplex (.strand base pairing), thus stabilizing the secondary structure (Fi作者: 類型 時間: 2025-3-28 19:45 作者: PANT 時間: 2025-3-28 23:44 作者: meditation 時間: 2025-3-29 07:08
Denise Rotta Ruttkay Pereira,Claudia Schweiger,Carolina F. de Souza,Simone Fagondes,Denise Manica,Roes can affect the . resulting in linear within-species evolution, often under the influence of natural selection (species survival). These changes associate with amino-acid-changing (non-synonymous) mutations in the first or second bases of triplet codons. DNA mutations can also result in changes in作者: Androgen 時間: 2025-3-29 09:35
Helen Beard,Sofia Hassiotis,Amanda J. Luck,Tina Rozaklis,John J. Hopwood,Kim M. Hemsleyust be resolved by appropriate trade-offs. These trade-offs sometimes require that genes accommodate spacers, introns, and simple sequence elements. The nature and extent of the trade-offs varies with the biological species. Study of trade-offs is facilitated in genes or species where demands are ex作者: Transfusion 時間: 2025-3-29 14:34 作者: transplantation 時間: 2025-3-29 17:45 作者: locus-ceruleus 時間: 2025-3-29 21:54
LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway,ynthetic pathway affecting monoamine metabolism that can lead to pediatric neurotransmitter diseases. Low levels of BH4 and neopterin alone may not be sufficient to determine the defect, and further testing is often required. We have developed a sensitive liquid chromatography tandem mass spectromet作者: 惰性氣體 時間: 2025-3-30 01:53 作者: headlong 時間: 2025-3-30 04:37
A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect,ellular pathophysiology of cblC is a field of active study, little attention has been dedicated to documenting the cognitive consequences of the defect. The neuropsychological assessment of nine individuals aged between 23 months and 24 years was conducted to establish cognitive profiles. Results re作者: 大包裹 時間: 2025-3-30 10:51 作者: Brain-Imaging 時間: 2025-3-30 13:16 作者: 地殼 時間: 2025-3-30 19:22
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome, deficiency in order to determine whether low CoQ is a recurrent biochemical feature of this disorder, to justify CoQ. supplementation as therapeutic option..CoQ. levels were investigated in plasma, white blood cells, and skin fibroblasts of 16 patients and healthy controls and in the brain, cerebel作者: 宿醉 時間: 2025-3-31 00:05
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients wite VI and to describe upper airway anatomical findings and abnormal PSG results in these patients. In this cross-sectional study, all MPS VI patients followed up at the genetic division of a hospital in southern Brazil were included. Overnight PSG was performed, and the results were classified as nor作者: 好色 時間: 2025-3-31 02:57 作者: AV-node 時間: 2025-3-31 06:22 作者: Water-Brash 時間: 2025-3-31 10:58 作者: 嘲弄 時間: 2025-3-31 13:22
The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis,te and Emmi Emmental fondue mix from 32 cheese samples. The Medical Advisory Panel define suitable cheese in galactosaemia to have a lactose and galactose content consistently below 10?mg/100?g...: A total of 32 samples (5 types of mature Cheddar cheese, Comte and “Emmi Swiss Fondue”, an emmental fo
