標題: Titlebook: JIMD Reports, Volume 37; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI [打印本頁] 作者: cobble 時間: 2025-3-21 19:30
書目名稱JIMD Reports, Volume 37影響因子(影響力)
書目名稱JIMD Reports, Volume 37影響因子(影響力)學科排名
書目名稱JIMD Reports, Volume 37網絡公開度
書目名稱JIMD Reports, Volume 37網絡公開度學科排名
書目名稱JIMD Reports, Volume 37被引頻次
書目名稱JIMD Reports, Volume 37被引頻次學科排名
書目名稱JIMD Reports, Volume 37年度引用
書目名稱JIMD Reports, Volume 37年度引用學科排名
書目名稱JIMD Reports, Volume 37讀者反饋
書目名稱JIMD Reports, Volume 37讀者反饋學科排名
作者: lavish 時間: 2025-3-21 21:29
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutvery low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some residual activity develop the less severe disorder known as Cholesteryl ester storage disorder (CESD). We present the clinical, biochemical, and molecular findings of 23 Spanish patien作者: 太空 時間: 2025-3-22 03:06 作者: insert 時間: 2025-3-22 08:33 作者: Alpha-Cells 時間: 2025-3-22 09:18 作者: 王得到 時間: 2025-3-22 14:25
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features iost frequent disorder of mitochondrial energy production in children. Beside its great variability in clinical, biochemical, and genetic features, LS is pathologically uniformly characterized by multifocal bilateral and symmetric spongiform degeneration of the basal ganglia, brainstem, thalamus, cer作者: 異常 時間: 2025-3-22 20:36
Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS but was readmitted at 58?h of life with mild respiratory distress and increased muscle tone. Neonatal abstinence syndrome because of maternal use of lithium, clomipramine, and quetiapine during pregnancy was suspected, but at 115?h of life she became unresponsive, and an immediate work-up for coma 作者: Guileless 時間: 2025-3-23 01:00
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?, thymine degradation. The spectrum of clinical presentations in subjects with the full biochemical phenotype of DPD deficiency ranges from asymptomatic individuals to severely affected patients suffering from seizures, microcephaly, muscular hypotonia, developmental delay and eye abnormalities..We r作者: 肉體 時間: 2025-3-23 02:27 作者: 花爭吵 時間: 2025-3-23 08:05
Clinical and Molecular Variability in Patients with , Variants and Liver Phosphorylase b Kinase Defosphorylase b kinase (PhK) deficiency (GSD IX) can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth with considerable variation in clinical severity. PhK is a cAMP-dependent protein kinase that phosphorylates the inactive form of glyc作者: 遺產 時間: 2025-3-23 10:06
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Bloodisorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially作者: 碎石 時間: 2025-3-23 14:47
The Impact of Fabry Disease on Reproductive Fitness,ports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to d作者: 魅力 時間: 2025-3-23 21:17 作者: 猛烈責罵 時間: 2025-3-24 00:42
Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuriaave examined the relationship between treatment compliance and parental wellbeing. In the present study, 46 primary caregivers of children with PKU completed measures of psychological distress, parenting stress (related to caring for a child with an illness), resilience, perceived social support and作者: 思考 時間: 2025-3-24 02:24 作者: Substitution 時間: 2025-3-24 09:52
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: Heterodoxy 時間: 2025-3-24 13:47 作者: 織物 時間: 2025-3-24 15:18
978-3-662-56358-8Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017作者: 感染 時間: 2025-3-24 21:19
JIMD Reports, Volume 37978-3-662-56359-5Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 背帶 時間: 2025-3-25 02:25 作者: Medley 時間: 2025-3-25 04:10 作者: FISC 時間: 2025-3-25 09:42
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features i with a mutation of . gene, coding for an accessory subunits of complex I, was described. Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in ., providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition.作者: BOAST 時間: 2025-3-25 15:13
2192-8304 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.978-3-662-56358-8978-3-662-56359-5Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 變量 時間: 2025-3-25 19:46 作者: 一窩小鳥 時間: 2025-3-25 21:07 作者: negligence 時間: 2025-3-26 01:58
Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiweight/d was given. Meals were taken every 3?h. Additionally, 70?g of starch was given at midnight to maintain normoglycemia at night time. Peripartum, a complete parenteral nutrition, was delivered through a central venous catheter. The patient delivered a healthy male infant by Caesarean section a作者: avarice 時間: 2025-3-26 06:13
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis,. The formed .H.-.C.-creatine was butylated and subsequently measured by liquid chromatography tandem mass-spectrometry (LC-MS/MS).... We measured GAMT enzyme activity in lymphocyte extracts of 24 controls, 3 GAMT deficient patients and of 2 parents proven to be carrier. Because GAMT activity decrea作者: 斗志 時間: 2025-3-26 08:33 作者: xanthelasma 時間: 2025-3-26 14:27 作者: Classify 時間: 2025-3-26 20:08
Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGSy. Under long-term treatment with NCG, the patient developed normally at last follow-up at 7 months of age..In conclusion, the standard neonatal situation of a neurologically compromised newborn turned out as a treatable rare inborn error of metabolism. In all neonates with somnolence and coma and h作者: 碌碌之人 時間: 2025-3-26 22:12
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?,ted in an in-frame insertion of 21 base pairs (c.2059-21_c.2059-1) of intron 16 of DPYD. Family investigation showed that the asymptomatic father was also homozygous for the same mutation and enzymatic and biochemical findings were similar to his severely affected son. When the child deteriorated cl作者: 夾克怕包裹 時間: 2025-3-27 01:25
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency Duringhen exposed to high homocysteine and methionine has increased synthesis of cystathionine which cannot be cleared because the fetus lacks cystathionine gamma-lyase, and thus cystathionine is returned to the mother’s circulation. This situation could lead to a misdiagnosis of the cause of hyperhomocys作者: vasculitis 時間: 2025-3-27 06:27
Clinical and Molecular Variability in Patients with , Variants and Liver Phosphorylase b Kinase Defked liver PhK deficiency caused by mutations in .. We found that there is variability in the severity of clinical features, including hypoglycemia and growth. We also report additional . variants that were identified in 24 patients suspected to have liver PhK deficiency. The basis of the clinical va作者: Torrid 時間: 2025-3-27 12:42 作者: 無聊的人 時間: 2025-3-27 14:33 作者: inflame 時間: 2025-3-27 21:16 作者: evasive 時間: 2025-3-28 00:38 作者: 使激動 時間: 2025-3-28 04:07
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Clasvariates (age or gender) as fixed effects where appropriate...: Four articles were included in this meta-analysis. Data of 87 individuals (median age 13?years, range 3–38?years) were used to assess mean FSIQ in CG. The FSIQ ranged from 47 to 122, and the mean score was 87 (95% CI, 81–94). Forty-five作者: 哄騙 時間: 2025-3-28 09:35
David Santosa,Markus G. Donner,Stephan vom Dahl,Markus Fleisch,Thomas Hoehn,Ertan Mayatepek,Katrin H作者: 外科醫(yī)生 時間: 2025-3-28 14:30
Carla Ruiz-Andrés,Elena Sellés,Angela Arias,Laura Gort,The Spanish LAL Deficiency Working Group作者: DAUNT 時間: 2025-3-28 15:14
Lisette M. Berends,Eduard A. Struys,Birthe Roos,Ulbe Holwerda,Erwin E. W. Jansen,Gajja S. Salomons,M作者: Rejuvenate 時間: 2025-3-28 18:56 作者: 口音在加重 時間: 2025-3-29 00:50 作者: Affection 時間: 2025-3-29 06:05 作者: Indigence 時間: 2025-3-29 07:33
M. Fleger,J. Willomitzer,R. Meinsma,M. Alders,J. Meijer,R. C. M. Hennekam,M. Huemer,A. B. P. van Kui作者: POINT 時間: 2025-3-29 12:41
Sally P. Stabler,Cynthia Freehauf,Robert H. Allen,Janet Thomas,Renata Gallagher作者: Interstellar 時間: 2025-3-29 19:37
Deeksha S. Bali,Jennifer L. Goldstein,Keri Fredrickson,Stephanie Austin,Surekha Pendyal,Catherine Re作者: 小故事 時間: 2025-3-29 20:08
Charlotte Veyrat-Durebex,Christelle Debeissat,Hélène Blasco,Franck Patin,Hélène Henique,Patrick Emon作者: capsule 時間: 2025-3-30 00:04
Dawn A. Laney,Virginia Clarke,Allison Foley,Eric W. Hall,Scott E. Gillespie,Myrl Holida,Morgan Simmo作者: BRIEF 時間: 2025-3-30 05:34 作者: HUMID 時間: 2025-3-30 09:31 作者: 禮節(jié) 時間: 2025-3-30 12:27
Lindsey Welling,Susan E. Waisbren,Kevin M. Antshel,Hugh-Owen Colhoun,Matthias Gautschi,Stephanie Grü作者: Accrue 時間: 2025-3-30 17:59 作者: 不妥協(xié) 時間: 2025-3-30 21:42
Book 2009mself with John Rawls’s contract theory, he seeks to legitimize his concept of wealth maximization with a consensus theory approach...In his interdisciplinary study, the author points out the possibilities as well as the limits of economic analysis of law. It provides a method of analysing the law w作者: Range-Of-Motion 時間: 2025-3-31 01:49
Tilak K. Doshi,Nahim B. Zahuring and deploying services are well established, methods for ensuring trust and security are fewer and less mature. Lack of trust and confidence in composed services and in their constituent parts is reckoned to be one of the significant factors limiting widespread uptake of service-oriented computi作者: BUCK 時間: 2025-3-31 05:00
d process requirements, and introduces VLAB? as a tool and operating environment for virtualization based development of embedded software and systems. In order to make these concepts as fully covered and easily understood as possible, we will focus and contain the scope of the paper to their applic
