標(biāo)題: Titlebook: JIMD Reports, Volume 36; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI [打印本頁(yè)] 作者: DART 時(shí)間: 2025-3-21 17:41
書(shū)目名稱JIMD Reports, Volume 36影響因子(影響力)
作者: output 時(shí)間: 2025-3-21 20:29
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 clinica作者: Chipmunk 時(shí)間: 2025-3-22 04:04 作者: 潛移默化 時(shí)間: 2025-3-22 07:34
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency,ting further damage in those who already exhibit irreversible neurological damage. Newborn screening for the disorder would have avoided years of clinical symptoms that now appear to be irreversible with biotin treatment.作者: vascular 時(shí)間: 2025-3-22 09:27 作者: Etching 時(shí)間: 2025-3-22 16:38 作者: 桉樹(shù) 時(shí)間: 2025-3-22 17:46
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: nuclear-tests 時(shí)間: 2025-3-22 22:42
JIMD Reportshttp://image.papertrans.cn/j/image/500074.jpg作者: nitroglycerin 時(shí)間: 2025-3-23 02:34 作者: 消音器 時(shí)間: 2025-3-23 08:12
https://doi.org/10.1007/978-3-662-56138-6inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic 作者: Anhydrous 時(shí)間: 2025-3-23 13:34
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate lysis of G6PD enzyme in red blood cells showed a severe deficiency and a deletion in .. Soy-formula, the standard treatment for galactosemia, has been reported to trigger hemolysis in G6PD deficient patients. G6PD and phosphoglucomutase-1 deficiencies should be considered when confirmatory tests are作者: accomplishment 時(shí)間: 2025-3-23 16:46
Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approtivities lying, standing or being dynamically active. Measuring physical activity during the whole weekend was practically feasible in all participants. We found good face validity by visually correlating the validation videos and activity diaries to the accelerometer data-graphs. Patients with mito作者: TIA742 時(shí)間: 2025-3-23 18:55 作者: 賞心悅目 時(shí)間: 2025-3-24 01:43
Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with d for further examination at the Center for Inherited Metabolic Diseases where the diagnosis was excluded. Thus, all included patients were negative for both MPS I, II and VI...: Though our sample size is relatively small, results indicate that MPS is not prevalent in a cohort of adult patients with作者: GEM 時(shí)間: 2025-3-24 03:48
Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?eems to result in a higher detection rate than the current 2–3?days...: The clinical status at birth in infants with PCD and infants born to mothers with PCD does not differ compared to control infants. Screening algorithms for PCD should focus on fC0, and blood samples should be taken when the mate作者: 讓你明白 時(shí)間: 2025-3-24 06:35
The Spectrum of Niemann-Pick Type C Disease in Greece,cholesteryl ester formation was severely reduced in 4/7 and significantly reduced in 3/7 patients studied. Increased chitotriosidase activity was observed in 9/12 patients. Mutation analysis in 11 unrelated patients identified 12 different mutations in the . gene: eight previously described p.E1089K作者: 震驚 時(shí)間: 2025-3-24 13:02 作者: NAG 時(shí)間: 2025-3-24 15:54
A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguinereport of a second mutation we fortify the importance of . as a novel cause of autosomal recessive nonsyndromic intellectual disability and support the premise that . is highly important for the neurodevelopment of the central nervous system...: The mutation p. 96G>R c. 286G>A in GPT2, located in a 作者: Palter 時(shí)間: 2025-3-24 20:06 作者: Addictive 時(shí)間: 2025-3-25 02:57 作者: crockery 時(shí)間: 2025-3-25 05:10
Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protbrane-tethered PPT1 was then generated. We show that expression of lysosome-restricted PPT1 in vivo largely rescues the INCL biochemical, histological, and functional phenotype. These data suggest that lysosomal tethering of PPT1 via the C-terminus of LAMP1 is a viable strategy and that this general作者: 混沌 時(shí)間: 2025-3-25 08:19 作者: sed-rate 時(shí)間: 2025-3-25 11:40
Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology Ca. and mitochondrial membrane potential and higher cytoplasmatic pH when compared to .+/+ animals. Also, Idua?/? fibroblasts were more resistant to the apoptotic induction with staurosporine, indicating a possible resistance to apoptotic induction in those cells. In addition, despite the intracell作者: 好開(kāi)玩笑 時(shí)間: 2025-3-25 19:34 作者: 貪婪性 時(shí)間: 2025-3-25 20:31
Saskia Koene,Ilse Dirks,Esmee van Mierlo,Pascal R. de Vries,Anjo J. W. M. Janssen,Jan A. M. Smeitink作者: Harbor 時(shí)間: 2025-3-26 00:34
Alberto Benussi,Maria Sofia Cotelli,Maura Cosseddu,Valeria Bertasi,Marinella Turla,Ettore Salsano,An作者: FLIT 時(shí)間: 2025-3-26 05:14
Mette Borch N?rmark,Nanna Kjaer,Allan Meldgaard Lund作者: annexation 時(shí)間: 2025-3-26 12:06
Jan Rasmussen,David M. Hougaard,Noreen Sandhu,Katrine Fj?llegaard,Poula R. Petersen,Ulrike Steuerwal作者: 積云 時(shí)間: 2025-3-26 16:22 作者: GUILE 時(shí)間: 2025-3-26 16:51
Esther van Dam,Anne Daly,Gineke Venema-Liefaard,Margreet van Rijn,Terry G. J. Derks,Patrick J. McKie作者: 煩擾 時(shí)間: 2025-3-26 22:09 作者: 責(zé)任 時(shí)間: 2025-3-27 03:48
Kathryn E. Coakley,Eric I. Felner,Vin Tangpricha,Peter W. F. Wilson,Rani H. Singh作者: AVERT 時(shí)間: 2025-3-27 08:04 作者: Nomadic 時(shí)間: 2025-3-27 12:06
Charles Shyng,Shannon L. Macauley,Joshua T. Dearborn,Mark S. Sands作者: 代理人 時(shí)間: 2025-3-27 16:20
S. S. Johansen,X. Wang,D. Sejer Pedersen,P. L. Pearl,J.-B. Roullet,G. R. Ainslie,K. R. Vogel,K. M. G作者: Ergots 時(shí)間: 2025-3-27 20:37 作者: 亞麻制品 時(shí)間: 2025-3-27 22:34
Gustavo Monteiro Viana,Cinthia Castro do Nascimento,Edgar Julian Paredes-Gamero,Vania D’Almeida作者: 發(fā)起 時(shí)間: 2025-3-28 04:24
of Brazil (five recent genera), Hispaniola (.: see Rimoli, 1977) and Jamaica (.); middle Miocene of Colombia (.); early Miocene (.) and latest Oligocene (.) of Patagonia, and also early Oligocene of Bolivia (.). However, Hershkovitz (1974.) has expressed doubts as to the n of . within the Platyrrhi作者: 注入 時(shí)間: 2025-3-28 09:12 作者: 爆炸 時(shí)間: 2025-3-28 13:49 作者: 預(yù)知 時(shí)間: 2025-3-28 18:36 作者: aristocracy 時(shí)間: 2025-3-28 21:02 作者: osteopath 時(shí)間: 2025-3-29 02:18
Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved? for PCD is now routine in many countries by measuring carnitine levels in infants. In this study we report Apgar scores, length and weight in newborns with PCD and newborns born to mothers with PCD compared to controls. Furthermore we report how effective different screening algorithms have been to作者: 眨眼 時(shí)間: 2025-3-29 06:20
The Spectrum of Niemann-Pick Type C Disease in Greece,id trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endosomes, and it exhibits a broad clinical spectrum. Today, over 420 disease-causing mutations have been identified in the . and the . genes. We present the clin作者: 漂白 時(shí)間: 2025-3-29 10:47 作者: 過(guò)濾 時(shí)間: 2025-3-29 14:36 作者: Flinch 時(shí)間: 2025-3-29 16:34 作者: 假裝是我 時(shí)間: 2025-3-29 23:13
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1, glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrom作者: decipher 時(shí)間: 2025-3-30 00:59
Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protsorders (LSDs). However, “cross-correction” poses a significant barrier to studying the role of specific cell types in LSD pathogenesis. By expressing the native enzyme in only one cell type, neighboring cell types are invariably corrected. In this study, we present a strategy to limit “cross-correc作者: 有惡意 時(shí)間: 2025-3-30 04:27
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semias a biomarker of succinic semialdehyde dehydrogenase deficiency (SSADHD). Our laboratory seeks to identify surrogate biomarkers in SSADHD that can shed light on the developmental course of this neurometabolic disease. Since GHB may be quantified in hair as a potential surrogate to identify victims 作者: 甜得發(fā)膩 時(shí)間: 2025-3-30 08:41
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Amales. Evidence on the most effective treatment for this patient subgroup is lacking. This audit surveyed the use of prophylactic GnA in the UK..Twenty female patients (who experienced between 2 and 45 acute attacks of porphyria requiring hospitalisation and treatment with human haemin prior to GnA 作者: mastoid-bone 時(shí)間: 2025-3-30 13:42 作者: Fermentation 時(shí)間: 2025-3-30 17:13 作者: BILK 時(shí)間: 2025-3-30 22:16 作者: Glycogen 時(shí)間: 2025-3-31 02:35
Environmental Policy and Sustainable Growth in Japan,carbonization. In particular, there is much more room for the Japanese government to strengthen its voluntary approach by providing large-scale back-end support for Japanese firms’ voluntary commitment toward decarbonization, which has recently spurred with increasing pressure from institutional investors.作者: Dignant 時(shí)間: 2025-3-31 05:07
