作者: 膽小懦夫 時(shí)間: 2025-3-21 23:15
Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood,c/dystonic attacks and permanent neurologic deficits. Attacks tend to persist through life. Flunarizine therapy occasionally reduces the severity, duration and frequency of attacks. A ketogenic diet/modified Atkins diet (KD/MAD) can attenuate paroxysmal movement disorders associated with GLUT1 defic作者: Accrue 時(shí)間: 2025-3-22 00:39 作者: 游行 時(shí)間: 2025-3-22 08:29 作者: 厭惡 時(shí)間: 2025-3-22 09:51 作者: 熱烈的歡迎 時(shí)間: 2025-3-22 13:10 作者: FISC 時(shí)間: 2025-3-22 19:40
Mortality in Patients with Morquio Syndrome A,ctivity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age...: To better understand the natural progression of the disease, life expectancy and common causes of death, death certificates were evaluated for作者: Ossification 時(shí)間: 2025-3-23 00:09 作者: maverick 時(shí)間: 2025-3-23 04:25
Common and Novel , Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopent generated by the mitochondrial respiratory chain. In addition to maternally transmitted cV dysfunction caused by mutations in mtDNA genes (. or .), encoding cV subunits, recessive mutations in the nuclear . are the most frequent cause of ATP synthase deficiency..We report on a cohort of ten Ital作者: jettison 時(shí)間: 2025-3-23 08:56
Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking e added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic galactosemia have been identified by NBS. Most of these infants were spared the trauma of acute disease by early diagnosis and intervention, and many are alive today because of NBS. Newborn screening fo作者: xanthelasma 時(shí)間: 2025-3-23 12:27
,Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations,he study group consisted of eight patients from a single Bedouin family with clinically and molecularly diagnosed Fanconi–Bickel syndrome who had been followed at the same tertiary medical center for 8 years or more. All were homozygous for the p.R310X mutation. The medical files were reviewed for p作者: 胰島素 時(shí)間: 2025-3-23 14:05
Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Aecessitating dose reductions or switching to agalsidase alfa in some patients...: We present two cases of Fabry disease (a parent and a child) who received agalsidase beta for 27?months at the licensed dose and 10?months at a reduced dose, followed by a switch to agalsidase alfa for 28?months..., a 作者: STALL 時(shí)間: 2025-3-23 21:43 作者: 越自我 時(shí)間: 2025-3-23 22:32
Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Diate cases. Here we report on such an atypical type B patient who died at 31?years of age from liver failure. This male subject was first seen in a paediatric department at the age of 3?years because of significant hepatosplenomegaly. Foam cells in bone marrow, interstitial pneumonitis, a slight faci作者: 間諜活動(dòng) 時(shí)間: 2025-3-24 02:20 作者: 擁護(hù)者 時(shí)間: 2025-3-24 06:32
CDF II and the CMS tracking detectors.Covers both small striIn the post era of the Z and W discovery, after the observation of Jets at UA1 and UA2 at CERN, John Ellis visioned at a HEP conference at Lake Tahoe, California in 1983 “To proceed with high energy particle physics, one has to tag the avou作者: Blazon 時(shí)間: 2025-3-24 13:06
James J Pitt,Frank Willis,Nicholas Tzanakos,Ruth Belostotsky,Yaacov Frishberg California in 1983 “To proceed with high energy particle physics, one has to tag the avour of the quarks!” This statement re ects the need for a highly precise tracking device, being able to resolve secondary and tertiary vertices within high-particle densities. Since the d- tance between the prima作者: chondromalacia 時(shí)間: 2025-3-24 16:51
Anne Roubergue,Bertrand Philibert,Agnès Gautier,Alice Kuster,Karine Markowicz,Thierry Billette de ViCDF II and the CMS tracking detectors.Covers both small striIn the post era of the Z and W discovery, after the observation of Jets at UA1 and UA2 at CERN, John Ellis visioned at a HEP conference at Lake Tahoe, California in 1983 “To proceed with high energy particle physics, one has to tag the avou作者: 殺人 時(shí)間: 2025-3-24 20:03 作者: Focus-Words 時(shí)間: 2025-3-25 00:06 作者: 有花 時(shí)間: 2025-3-25 06:50
Vincenzo Leuzzi,Mario Mastrangelo,Agata Polizzi,Cristiana Artiola,André B. P. van Kuilenburg,Carla Cunded over time.Highlights the need for a paradigm shift in .This book presents an overview on security and privacy issues in dynamic sensor networks and Internet of Things (IoT) networks and provides a novel tamper evident technique to counter and defend against these security related issues. The m作者: 辮子帶來幫助 時(shí)間: 2025-3-25 07:56 作者: 險(xiǎn)代理人 時(shí)間: 2025-3-25 14:58
Christine Lavery,Chris Hendrikszopment of a peculiar biota in which endemic South American taxa were mixed with immigrants from other continents. The mammalian taxonomic diversity of South America was mainly composed of two groups: Metatheria and Eutheria. In this scenario, the carnivorous adaptive zone in South America was repres作者: Nutrient 時(shí)間: 2025-3-25 18:41
Erin R. McNamara,Jennifer Sullivan,Shashi K. Nagaraj,John S. Wiener,Priya S. Kishnanictors has been demonstrated to exhibit many features of complex nonlinear spatio-temporal dynamics and self-organized pattern formation which occur in other dissipative systems as well. Recent progress has been obtained, for instance, in the theoretical description of such phenomena in terms of micr作者: uncertain 時(shí)間: 2025-3-26 00:04
Daria Diodato,Federica Invernizzi,Eleonora Lamantea,Gigliola Fagiolari,Rossella Parini,Francesca Men Supply Chain Management (SCM) has been a common buzzword in industry for the last decade and has been discussed in the literature since about 1985. In this chapter, the SCM needs for the semiconductor supply chain (or more accurately supply network) are analyzed. First, an overview of SCM is provid作者: 斜谷 時(shí)間: 2025-3-26 04:00
Brook M. Pyhtila,Kelly A. Shaw,Samantha E. Neumann,Judith L. Fridovich-Keil-increasing capacity, speed and functionality of computers and microprocessors. This strength provided management and workers within industries with new capabilities for management, planning and control, design, quality assurance and customer support. Organized information flow became the mainstay o作者: 大范圍流行 時(shí)間: 2025-3-26 08:19 作者: 流行 時(shí)間: 2025-3-26 10:04 作者: painkillers 時(shí)間: 2025-3-26 13:28 作者: 菊花 時(shí)間: 2025-3-26 18:47 作者: hemophilia 時(shí)間: 2025-3-26 21:44 作者: 統(tǒng)治人類 時(shí)間: 2025-3-27 01:56
Brook M. Pyhtila,Kelly A. Shaw,Samantha E. Neumann,Judith L. Fridovich-Keilh, whereas on an atomic scale one would observe deep valleys and tall mountains in the landscape. Of particular scientific interest in the past few decades have been surfaces that exhibit this rough behavior on a nanometer scale, often referred to as thin film surfaces. Numerous studies have been ca作者: fodlder 時(shí)間: 2025-3-27 07:21 作者: 不法行為 時(shí)間: 2025-3-27 10:53
https://doi.org/10.1007/978-3-662-43751-3endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease作者: 不開心 時(shí)間: 2025-3-27 13:47 作者: 嬉耍 時(shí)間: 2025-3-27 18:20 作者: hermitage 時(shí)間: 2025-3-27 22:17 作者: ASSET 時(shí)間: 2025-3-28 02:06 作者: 財(cái)主 時(shí)間: 2025-3-28 10:15
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.978-3-662-43750-6978-3-662-43751-3Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: Perigee 時(shí)間: 2025-3-28 13:21
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: Maximize 時(shí)間: 2025-3-28 18:25 作者: blackout 時(shí)間: 2025-3-28 20:39 作者: laceration 時(shí)間: 2025-3-29 00:44
Kelly D. Farwell Gonzalez,Xiang Li,Hsiao-Mei Lu,Hong Lu,Joan E. Pellegrino,Ryan T. Miller,Wenqi Zengication requires careful design so as to enforce adequate security while placing minimal burden on the already limited resources of the smart meters. In this chapter, we discuss a light-weight message authentication method for securing communication among various smart meters at different points of 作者: capillaries 時(shí)間: 2025-3-29 06:56 作者: output 時(shí)間: 2025-3-29 08:08
Erin R. McNamara,Jennifer Sullivan,Shashi K. Nagaraj,John S. Wiener,Priya S. Kishnaniher bifurcations such as travelling, rocking, breathing, or spiking filaments in layered semiconductor structures and in doped semiconductors in the regime of low temperature impurity breakdown for different contact geometries, as well as recent studies of localized two-dimensional structures in ZnS作者: 偽造 時(shí)間: 2025-3-29 14:33 作者: 道學(xué)氣 時(shí)間: 2025-3-29 17:04
Brook M. Pyhtila,Kelly A. Shaw,Samantha E. Neumann,Judith L. Fridovich-Keilanges were not so apparent. Neither the tools nor systems nor indeed their economic value seemed appropriate to them except for special cases. While all this was happening the structure of the larger companies began to disintegrate. Strong competitive pressures and globalization of the market place brought th978-1-4757-8006-2978-0-306-48696-8作者: TEM 時(shí)間: 2025-3-29 23:11
Kazuya Tsuboi,Hiroshi Yamamoto,Fuji Somura,Hiromi Goto platforms, services and content requires on the one hand clear positioning of market players to face these challenges and on the other hand to establish a technological foundation for open business models. In this chapter, we want to trace the evolution of service and service platform concepts in t作者: sed-rate 時(shí)間: 2025-3-30 02:03 作者: 埋伏 時(shí)間: 2025-3-30 07:47 作者: Amplify 時(shí)間: 2025-3-30 08:50 作者: Osteons 時(shí)間: 2025-3-30 12:47
ormation. In the beginning of the 21st century the new LHC experiments are beginning to take 2 shape. CMS with its 206m of silicon area is perfectly suited to cope with the high luminosity environment. Even lar978-3-642-06416-6978-3-540-44774-0Series ISSN 0081-3869 Series E-ISSN 1615-0430 作者: DRILL 時(shí)間: 2025-3-30 16:56 作者: 難解 時(shí)間: 2025-3-30 23:11
Sanne van Dongen,Ruth M. Brown,Garry K. Brown,David R. Thorburn,Avihu Bonehormation. In the beginning of the 21st century the new LHC experiments are beginning to take 2 shape. CMS with its 206m of silicon area is perfectly suited to cope with the high luminosity environment. Even lar978-3-642-06416-6978-3-540-44774-0Series ISSN 0081-3869 Series E-ISSN 1615-0430
