標(biāo)題: Titlebook: JIMD Reports - Case and Research Reports, 2012/1; c/o ACB Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherit [打印本頁] 作者: calcification 時間: 2025-3-21 19:01
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作者: GLADE 時間: 2025-3-21 21:45
Lindsay S. Paull,Michael J. Lipinski,William G. Wilson,Shawn E. Lipinski phage at the cost of reduced competitiveness for resources. Quantifying the cost of phage resistance has frequently relied on measuring specific traits of interest to industrial applications. In an evolutionary context, however, fitness encompasses the effects of all traits relevant to an organism’作者: Guileless 時間: 2025-3-22 00:42
Elisabeth De Greef,John Christodoulou,Ian E Alexander,Albert Shun,Edward V O’Loughlin,David R Thorbussists in estimating significant values beyond time. Numerous real-world forecasting applications exist that aim to estimate prominent values over time by exploiting the current time resources. Forecasting has a variety of applications in the real world. One of its applications in electric power con作者: PLE 時間: 2025-3-22 06:28
Cristina Villar,Jaume Campistol,Carmen Fons,Judith Armstrong,Anna Mas,Aida Ormazabal,Rafael Artuchadvanced tireless risk (APT) occasion. An association surrendering to such a partner degree assault generally continues serious money related misfortunes furthermore to declining piece of the pie, notoriety, and customer trust. Depending on scope, a phishing attempt may step up into a security episo作者: dermatomyositis 時間: 2025-3-22 10:57 作者: 有常識 時間: 2025-3-22 14:37 作者: Estrogen 時間: 2025-3-22 17:21
Ellen H. Jeninga,Monique de Vroede,Nicole Hamers,Johannes M. P. J. Breur,Nanda M. Verhoeven-Duif,Ruuund mit vielen Abbildungen.Mit einer Analyse der Evolution vWie entstand komplexes Leben – bis hin zum Menschen – aus der ersten Zelle? Das war die Frage, die der Begründer der biologischen Evolutionstheorie Charles Darwin in seinerzeit skandalerregender Weise beantwortete. Doch man kann weiterfrage作者: 吞噬 時間: 2025-3-22 22:06 作者: Ballerina 時間: 2025-3-23 02:32
Karin Naess,Michela Barbaro,Helene Bruhn,Rolf Wibom,Inger Nennesmo,Ulrika von D?beln,Nils-G?ran Larswohl die Kreationshypothese als auch die Altersangaben der Bibel sind damit unvereinbar. Aber h?ufiger als extreme Varianten findet man, zumindest in unseren geistigen Breitengraden, gem??igt-liberale oder deistische Varianten des Kreationismus, welche die heiligen Schriften metaphorisch anstatt w?r作者: 澄清 時間: 2025-3-23 08:48
Salvador Ibá?ez Micó,Rosario Domingo Jiménez,Eduardo Martínez Salcedo,Helena Alarcón Martínez,Albertarles Darwin in seinerzeit skandalerregender Weise beantwortete. Doch man kann weiterfragen: Was kam davor? Wie entstand die erste Zelle selber? Wie entstand unser Planetensystem? Wem oder was verdankt unser Universum die lebensfreundlichen Parametersetzungen? Und was kam danach? Was ?nderte sich, a作者: multiply 時間: 2025-3-23 10:47
Giovanni V. Coppa,Dania Buzzega,Lucia Zampini,Francesca Maccari,Lucia Santoro,Fabio Galeotti,Tizianaarles Darwin in seinerzeit skandalerregender Weise beantwortete. Doch man kann weiterfragen: Was kam davor? Wie entstand die erste Zelle selber? Wie entstand unser Planetensystem? Wem oder was verdankt unser Universum die lebensfreundlichen Parametersetzungen? Und was kam danach? Was ?nderte sich, a作者: 仇恨 時間: 2025-3-23 17:07 作者: antedate 時間: 2025-3-23 22:07
Evelien Zoons,Tom J. de Koning,Nico G. G. M. Abeling,Marina A. J. Tijsseniverse of Discourse" . Es handelt sich dabei um eine Thematik, die in jüng- ster Zeit zentrale Bedeutung erhalten hat, und von der man glaubt, oder doch zumindest hofft, heute k?ufliche Datenbanksysteme h?tten l?ngst die entspre- chenden L?sungen realisiert. Das Problem kann in zwei Dimensionen betr作者: mutineer 時間: 2025-3-24 02:05 作者: MEAN 時間: 2025-3-24 05:04 作者: Inscrutable 時間: 2025-3-24 08:28 作者: doxazosin 時間: 2025-3-24 10:40
Maria Francisca Coutinho,Liliana da Silva Santos,Lúcia Lacerda,Sofia Quental,Flemming Wibrand,Allan iverse of Discourse" . Es handelt sich dabei um eine Thematik, die in jüng- ster Zeit zentrale Bedeutung erhalten hat, und von der man glaubt, oder doch zumindest hofft, heute k?ufliche Datenbanksysteme h?tten l?ngst die entspre- chenden L?sungen realisiert. Das Problem kann in zwei Dimensionen betr作者: savage 時間: 2025-3-24 14:50
C. R. D. C. Quaio,H. Grinberg,M. L. C. Vieira,A. C. Paula,G. N. Leal,I. Gomy,S. Leistner-Segal,R. Githand of test kits available to diagnose the COVID-19 disease. The tests available to diagnose the COVID-19 are RT-PCR (real-time polymerase chain reaction), Rapid Antigen test and Antibody test. But in these, only RT-PCR has the high accuracy, and it is a time-taking process. It takes nearly from 4作者: 試驗 時間: 2025-3-24 19:26
Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant n of globotriaosylceramide in vascular endothelial cells. The multi-systemic manifestations of Fabry disease include cardiac, gastrointestinal, renal, and neuropathic complications. Renal dysfunction and ultimately end-stage renal disease occurs in classically affected males and in about 10–15% of f作者: 猛擊 時間: 2025-3-24 23:51
Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Fivesible multi-organ involvement..Aim: To illustrate the clinical diversity of MRCD, the difficulty in making an accurate tissue diagnosis and whether to undertake OLT in five patients with proven MRCD. A review of the reported cases in the literature is presented..Methods: Retrospective chart review f作者: triptans 時間: 2025-3-25 05:06
Glycine and ,-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficfinding of severe hyperhomocysteinemia in one of these cases..Five male patients (age range: 12–20; median = 13 years) genetically confirmed of CRTR deficiency, who were treated with oral glycine (200 mg/kg/day) and .-arginine (400 mg/kg/day) twice a day for 9 months. Clinical follow-up was done at 作者: 兇兆 時間: 2025-3-25 10:44 作者: Palatial 時間: 2025-3-25 15:19
Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome,essive deposition of GL-3 starts early in life, presumably as early as in fetal life. Chronic burning or provoked attacks of excruciating pain in hands and feet in Fabry disease are common in most children as well as GI-symptoms..We describe a case of pediatric Fabry disease with gastrointestinal dy作者: Palter 時間: 2025-3-25 16:27 作者: 禍害隱伏 時間: 2025-3-25 23:58
The Paradox of Hyperdopaminuria in Aromatic ,-Amino Acid Deficiency Explained, AADC deficiency, dopamine and serotonin deficiency leads to a severe clinical picture with mental retardation, oculogyric crises, hypotonia, dystonia, and autonomic dysregulation. However, despite dopamine deficiency in the central nervous system, urinary dopamine excretion in AADC-deficient patien作者: 使痛苦 時間: 2025-3-26 01:08
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in ,: Indications for S., encoding seipin (CGL2; MIM 269700), ., encoding caveolin1 (CGL3; MIM 612526) or ., encoding polymerase I and transcript release factor (CGL4; MIM 613327). This study aims to investigate the genotype/phenotype relationship and search for a possible pathogenic mechanism in a patient with CGL...: Ca作者: 補角 時間: 2025-3-26 06:41 作者: Herbivorous 時間: 2025-3-26 11:53 作者: 英寸 時間: 2025-3-26 12:48
Epilepsy in Biotinidase Deficiency After Biotin Treatment,vitis, alopecia, and dermatitis. Clinical features normally appear within the first months of life, between two and five. Seizures are one of the most common symptoms in these patients (55%), usually presented as generalized tonic–clonic, and improving within 24 h of biotin treatment. Treatment dela作者: Calibrate 時間: 2025-3-26 17:49 作者: 啞劇 時間: 2025-3-27 00:24
Functional Characterization of Five , Missense Mutations Found in Argentinean Variegate Porphyria Prphyria in Argentina. This autosomal dominant disorder is clinically characterized by skin lesions and/or acute neurovisceral attacks. The precise diagnosis of patients with a symptomatic VP is essential to provide accurate treatment. It is also critical to identify asymptomatic relatives to avoid p作者: 無底 時間: 2025-3-27 03:45
,Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis,ment of the frontal diploe on the MRI. Metabolic testing revealed that she had α-mannosidosis (AMD), a lysosomal storage disorder...: AMD is a rare genetic disorder that causes α-mannosidase deficiency resulting in lysosomal accumulation of undigested oligosaccharides. The symptoms of AMD consist of作者: ambivalence 時間: 2025-3-27 08:25 作者: braggadocio 時間: 2025-3-27 09:34 作者: 凝結(jié)劑 時間: 2025-3-27 16:08 作者: Corroborate 時間: 2025-3-27 20:03 作者: happiness 時間: 2025-3-28 01:29 作者: 十字架 時間: 2025-3-28 05:19
Book 2012JIMD 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: 愛管閑事 時間: 2025-3-28 07:31
https://doi.org/10.1007/978-3-642-25752-0endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease作者: Pageant 時間: 2025-3-28 12:54
978-3-642-25751-3SSIEM and Springer-Verlag Berlin Heidelberg 2012作者: Stress-Fracture 時間: 2025-3-28 16:16 作者: Hla461 時間: 2025-3-28 19:01 作者: Venules 時間: 2025-3-29 00:55
JIMD Reportshttp://image.papertrans.cn/j/image/500042.jpg作者: 親密 時間: 2025-3-29 05:57 作者: 嘲弄 時間: 2025-3-29 07:25 作者: convulsion 時間: 2025-3-29 12:13 作者: irradicable 時間: 2025-3-29 17:49 作者: Pamphlet 時間: 2025-3-29 23:31 作者: 下船 時間: 2025-3-30 02:05
Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome,smotility symptoms as primary and most severe complaints. Colonic pseudoobstruction and necrosis developed by the age of 15 years. We hypothesize that this patient developed a gastrointestinal phenotype of pediatric Fabry disease that has not been described before.作者: chapel 時間: 2025-3-30 07:13
Ellen H. Jeninga,Monique de Vroede,Nicole Hamers,Johannes M. P. J. Breur,Nanda M. Verhoeven-Duif,Ruun, den aktuellsten Wissensstand widerspiegelnd, hat darin ebenso ihren Platz wie die kulturelle Evolution und die Konzeption der Meme. Ebenso geh?ren die pr?biologisch-kosmische Protoevolution, die Auseinanders978-3-8274-3118-9978-3-8274-2666-6作者: 耕種 時間: 2025-3-30 11:08
Laura Rodríguez-Pascau,Maria Josep Coll,Josefina Casas,Llu?sa Vilageliu,Daniel Grinberg作者: 時代 時間: 2025-3-30 13:08
Tessa Wassenberg,Leo A. H. Monnens,Ben P. B. H. Geurtz,Ron A. Wevers,Marcel M. Verbeek,Michèl A. A. 作者: 時代 時間: 2025-3-30 17:30
rming 3,985 single gene knockout mutants from the Keio collection with a plasmid that can confer aerobic growth on citrate. In our preliminary screen, we identified 111 genes putatively necessary for expression of the Cit+ trait. Of these, ～ 32% are involved in core metabolic pathways, including the作者: EXULT 時間: 2025-3-30 20:45 作者: seroma 時間: 2025-3-31 04:12 作者: CLEFT 時間: 2025-3-31 08:11
Cristina Villar,Jaume Campistol,Carmen Fons,Judith Armstrong,Anna Mas,Aida Ormazabal,Rafael Artuchhe UC Irvine AI Repository database. For results appraisal, random forest (RF) was contrasted and elective machine learning ways like linear regression (LR), support vector machine (SVM), Naive Bayes (NB), gradient boosting classifier (GBM), artificial neural network (ANN) and recognized to have the作者: acclimate 時間: 2025-3-31 09:44 作者: 傻 時間: 2025-3-31 16:48
Piotr Buda,Anna Wieteska-Klimczak,Janusz Ksiazyk,Piotr Gietka,Anna Smorczewska-Kiljan,Maciej Pronickene which is present in chromosome 17. So, the TP53, a coding gene that is responsible for the production of P53 protein has been taken as a reference gene for the identification of cancer. A visual mutation identification technique using color encodings is also added which makes the user easily ide作者: 過時 時間: 2025-3-31 20:57 作者: 壟斷 時間: 2025-4-1 01:11 作者: allude 時間: 2025-4-1 04:01
Salvador Ibá?ez Micó,Rosario Domingo Jiménez,Eduardo Martínez Salcedo,Helena Alarcón Martínez,Alberter in einfacher und anschaulich illustrierter Weise nahegebracht. Die biologische Evolution, den aktuellsten Wissensstand widerspiegelnd, hat darin ebenso ihren Platz wie die kulturelle Evolution und die Konzeption der Meme. Ebenso geh?ren die pr?biologisch-kosmische Protoevolution, die Auseinanders作者: 無孔 時間: 2025-4-1 07:07
Giovanni V. Coppa,Dania Buzzega,Lucia Zampini,Francesca Maccari,Lucia Santoro,Fabio Galeotti,Tizianaer in einfacher und anschaulich illustrierter Weise nahegebracht. Die biologische Evolution, den aktuellsten Wissensstand widerspiegelnd, hat darin ebenso ihren Platz wie die kulturelle Evolution und die Konzeption der Meme. Ebenso geh?ren die pr?biologisch-kosmische Protoevolution, die Auseinanders
