標(biāo)題: Titlebook: JIMD Reports - Case and Research Reports, Volume 13; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag [打印本頁] 作者: papertrans 時間: 2025-3-21 16:28
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書目名稱JIMD Reports - Case and Research Reports, Volume 13讀者反饋
書目名稱JIMD Reports - Case and Research Reports, Volume 13讀者反饋學(xué)科排名
作者: CHAFE 時間: 2025-3-22 00:05 作者: MOTTO 時間: 2025-3-22 01:02 作者: averse 時間: 2025-3-22 04:33
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome,formation-field-based morphometry of brain magnetic resonance images constitutes a novel quantitative tool, which might be very useful to monitor disease course and therapeutic effects in neurometabolic disorders.作者: CRUMB 時間: 2025-3-22 11:06 作者: Affection 時間: 2025-3-22 13:27
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance,fed for 6 months. His growth and development was normal. Mild proteinuria started at the fourth month of the delivery. Our case report showed the importance of follow-up of these patients in terms of placental pathologies during pregnancy and for other complications during lactation period.作者: 載貨清單 時間: 2025-3-22 19:19 作者: HERE 時間: 2025-3-22 23:44
2192-8304 tabolic disorders.All contributions rigorously peer-reviewedJIMD 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作者: Instrumental 時間: 2025-3-23 05:14
978-3-642-54148-3SSIEM and Springer-Verlag Berlin Heidelberg 2014作者: BOLT 時間: 2025-3-23 08:04
JIMD Reports - Case and Research Reports, Volume 13978-3-642-54149-0Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 凈禮 時間: 2025-3-23 10:13 作者: 畸形 時間: 2025-3-23 14:18
JIMD Reportshttp://image.papertrans.cn/j/image/500047.jpg作者: 有雜色 時間: 2025-3-23 21:34 作者: 羅盤 時間: 2025-3-23 22:48 作者: 摘要記錄 時間: 2025-3-24 05:44 作者: Inscrutable 時間: 2025-3-24 09:05
Luke Chen,G. Michael Halmagyi,Michael J. Todd,Swee T. Aw encoding biosynthesis gene clusters remain silent under laboratory conditions and the ecological context is required for their activation. Therefore, we have initiated research on the activation of such silent gene clusters by microbial communication. Since then, many studies attempted to mimic nat作者: 溺愛 時間: 2025-3-24 14:15 作者: ADORN 時間: 2025-3-24 16:45
Kathleen A. Delaney,Kyle R. Rudser,Brianna D. Yund,Chester B. Whitley,Patrick A. J. Haslett,Elsa G. ell as the characteristics that distinguish them from their sister group, the metazoans, and other fungus-like groups such as the slime molds and oomycetes. Many fungal species are important pathogens of animals and plants and have distinct but parallel pathogenicity strategies. Mutualistic interact作者: Cumulus 時間: 2025-3-24 22:20
Makoto Kamei,Karissa Kasperski,Maria Fuller,Emma J. Parkinson-Lawrence,Litsa Karageorgos,Valery Belaell as the characteristics that distinguish them from their sister group, the metazoans, and other fungus-like groups such as the slime molds and oomycetes. Many fungal species are important pathogens of animals and plants and have distinct but parallel pathogenicity strategies. Mutualistic interact作者: 評論性 時間: 2025-3-25 00:42 作者: Paradox 時間: 2025-3-25 04:16 作者: abduction 時間: 2025-3-25 08:57 作者: 植物學(xué) 時間: 2025-3-25 15:18
Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Eon, c.692T>G (p.F231C) in ETFDH. The affected animal only carries mutant alleles of ETFDH. p.F231 in feline ETFDH is completely conserved in eukaryotes, and is located on the apical surface of ETFDH, receiving electrons from ETF. This study thus identified the mutation strongly suspected to have bee作者: radiograph 時間: 2025-3-25 18:15
Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconvent that the patient was apparently homozygous for a novel nucleotide deletion (c.840delG) in exon 6 leading to a premature termination codon (p.N281Mfs*23). However, family studies revealed that while the patient’s mother was heterozygous for this mutation, the father was heterozygous for a novel dele作者: set598 時間: 2025-3-25 23:18
,Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent,nt mice, investigating the effects of two strain backgrounds. Morphological analysis indicated a severe consistent pattern of neuronal vacuolation and disintegrative degeneration in all five 129X1/SvJ mice. However, the mice with a mixed genetic background showed substantial variability in the sever作者: 爭吵 時間: 2025-3-26 01:11
High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria,nd in PKU adults well above. Children between 10 and 13 years had the highest level of plasma folate. Young children had both a high intake and high plasma levels of vitamin B12. Homocysteine levels were low or in the lower part of the normal reference range in most patients... Children with PKU are作者: dendrites 時間: 2025-3-26 06:32 作者: HILAR 時間: 2025-3-26 09:10 作者: 搏斗 時間: 2025-3-26 13:54
,Vestibular and Saccadic Abnormalities in Gaucher’s Disease,ith surface electrodes. HIT showed impaired individual semicircular canal function with halved angular vestibulo-ocular reflex (VOR) gains and absent horizontal refixation saccade. Ocular and cervical VEMPs to air-conducted clicks were absent in the older sibling, and only cervical VEMP was present 作者: 彈藥 時間: 2025-3-26 18:30 作者: burnish 時間: 2025-3-26 22:08 作者: 補助 時間: 2025-3-27 02:09
Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q7s gentamicin (4,6-disubstituted) had the reverse effect on read-through for both mutations. The predicted mRNA secondary structural changes for both mutations were markedly different, which may explain these different effects on read-through for these two premature stop codons.作者: 多產(chǎn)子 時間: 2025-3-27 08:51
Dietary Habits and Metabolic Control in Adolescents and Young Adults with Phenylketonuria: Self-Imp作者: 暗指 時間: 2025-3-27 12:01 作者: archetype 時間: 2025-3-27 16:23 作者: bypass 時間: 2025-3-27 19:17
I. Sahai,C. L. Garganta,J. Bailey,P. James,H. L. Levy,M. Martin,E. Neilan,C. Phornphutkul,D. A. Swee作者: 強(qiáng)制性 時間: 2025-3-28 01:24
T Cloppenborg,N Janzen,HJ Wagner,U Steuerwald,M Peter,AM Das作者: Etching 時間: 2025-3-28 05:30
S. Sirrs,P. Munk,P. I. Mallinson,H. Ouellette,G. Horvath,S. Cooper,G. Da Roza,D. Rosenbaum,M. O’Rile作者: 駁船 時間: 2025-3-28 08:52 作者: 并置 時間: 2025-3-28 13:24 作者: 最低點 時間: 2025-3-28 15:42
Shoichi Wakitani,Shidow Torisu,Taiki Yoshino,Kazuhisa Hattanda,Osamu Yamato,Ryuji Tasaki,Haruo Fujit作者: 摸索 時間: 2025-3-28 20:41
Felix Distelmaier,Peter Huppke,Peter Pieperhoff,Katrin Amunts,J?rg Schaper,Eva Morava,Ertan Mayatepe作者: 盡管 時間: 2025-3-29 02:41
Lorenza Pugni,Enrica Riva,Carlo Pietrasanta,Claudio Rabacchi,Stefano Bertolini,Cristina Pederiva,Fab作者: 怪物 時間: 2025-3-29 03:31 作者: 圓柱 時間: 2025-3-29 10:55
Kathryn L. Lovell,Mei Zhu,Meghan C. Drummond,Robert C. Switzer III,Karen H. Friderici作者: 輕率看法 時間: 2025-3-29 13:13 作者: 使服水土 時間: 2025-3-29 18:51
Newborn Screening for Glutaric Aciduria-II: The New England Experience,up of positive GA-II screens by the New England Newborn Screening Program..Methods: 1.5 million infants were screened for GA-II (Feb 1999–Dec 2012). Specialist consult was suggested for infants with two or more acylcarnitine elevations suggestive of GA-II..Results: 82 neonates screened positive for 作者: PHONE 時間: 2025-3-29 21:42 作者: Palpable 時間: 2025-3-30 01:29 作者: CLOUT 時間: 2025-3-30 04:38
Cystinosis with Sclerotic Bone Lesions,lesions, which were an incidental finding on chest computerized tomography. These lesions were in a pattern consistent with osteoblastic metastases. He did not have a history of clinically significant hyperparathyroidism or cytopenias either preceding or following his transplant. Bone and tumor mark作者: 樹木中 時間: 2025-3-30 11:52
Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance,bleeding complications during delivery. There has been limited number of reports about pregnancy and outcomes of lactation in LPI. Here we present pregnancy and lactation outcomes in a Turkish patient with LPI. In the pregnancy and delivery period, her metabolic status was stable with protein-restri作者: 詢問 時間: 2025-3-30 12:55 作者: Hyperalgesia 時間: 2025-3-30 17:36
Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Eof the mitochondrial fatty-acid oxidation disorders. MADD is caused by a defect in the electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH) molecule, but as yet, inherited MADD has not been reported in animals. Here we present the first report of MADD in a cat. The affected animal prese作者: 自戀 時間: 2025-3-30 20:45 作者: 上流社會 時間: 2025-3-31 03:20
Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconvent pancreatitis. A 23-day-old male with sHTG was admitted to the Neonatal Intensive Care Unit for plasmapheresis being at high risk for acute pancreatitis. Given the potential hazard of an extracorporeal technique in a very young infant, we decided to perform an exchange transfusion (ET), a procedure 作者: 懶洋洋 時間: 2025-3-31 06:42 作者: Absenteeism 時間: 2025-3-31 11:58
,Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent, glycoprotein catabolism caused by deficiency of the lysosomal enzyme β-mannosidase, is characterized by intracellular accumulation of small oligosaccharides in selected cell types. In ruminants, clinical manifestation is severe, and neuropathology includes extensive intracellular vacuolation and dy作者: 返老還童 時間: 2025-3-31 14:00
High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria,nts of this vitamin. Concern has been raised about the safety of high levels of folic acid, especially in relation to cancer risk... This cross-sectional study included 34 children and 22 adults with PKU. A dietary interview was performed and intake of folic acid and vitamin B12 from protein substit作者: 哭得清醒了 時間: 2025-3-31 19:20 作者: STIT 時間: 2025-3-31 23:42 作者: IDEAS 時間: 2025-4-1 02:53
,Vestibular and Saccadic Abnormalities in Gaucher’s Disease,rosidase deficiency, resulting in multi-organ pathology. GD type III has a progressive neurological involvement. We studied the vestibular and saccadic abnormalities in GD type III to determine if these parameters may be useful for assessing neurological involvement. We evaluated the vestibular and 作者: 創(chuàng)新 時間: 2025-4-1 09:44
Evaluation of Physiological Amino Acids Profiling by Tandem Mass Spectrometry,ninhydrin derivatization and UV detection at two wavelengths. Unfortunately, the technique presents some drawbacks such as long run time, large sample volume, and specific costs associated to the maintenance of a dedicated instrument. Therefore, we aimed to switch towards a mass spectrometry approac作者: Immunotherapy 時間: 2025-4-1 10:33 作者: 聯(lián)想記憶 時間: 2025-4-1 16:32
Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q7patients. Read-through drugs have been used to suppress premature stop codons, and this can potentially be used to treat patients who have this type of mutation. We examined the effects of aminoglycoside treatment on the IDUA mutations Q70X and W402X in cultured cells and show that 4,5-disubstituted作者: 帶來 時間: 2025-4-1 22:11
S. Dreha-Kulaczewski,V. Kalscheuer,A. Tzschach,H. Hu,G. Helms,K. Brockmann,A. Weddige,P. Dechent,G. Dikarya. Interestingly, the genus . is the only group of fungi among the early diverged fungi outside of the Dikarya that exhibits the yeast–hyphae transition. Their morphogenic switch is controlled by environmental factors such as low oxygen and high carbon dioxide concentrations. Genetically, the作者: cleaver 時間: 2025-4-2 02:19
