標(biāo)題: Titlebook: JIMD Reports, Volume 34; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI [打印本頁] 作者: opioid 時(shí)間: 2025-3-21 19:57
書目名稱JIMD Reports, Volume 34影響因子(影響力)
作者: LAP 時(shí)間: 2025-3-22 00:17 作者: 玉米棒子 時(shí)間: 2025-3-22 04:15
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965 method has undergone a continuous development with not only improvements of the positive predictive value but also identification of milder forms of the disease. With the introduction of genetic testing the confirmation of the diagnosis has improved. The Swedish NBS is centralized to one laboratory作者: fiction 時(shí)間: 2025-3-22 05:37
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansionnd developmental delay. Investigations of these patients revealed associated abnormal findings on brain imaging, elevated CK, abnormal clotting factors and mildly deranged serum transaminases. We describe the ninth case of DMP1-CDG, whose clinical presentation includes severe gastrointestinal involv作者: 從屬 時(shí)間: 2025-3-22 10:13
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review,). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet. While this is lifesaving in the neonate, complications persist in treated individuals, and the cause of these, despite early initiation of treatment, and作者: BADGE 時(shí)間: 2025-3-22 15:17 作者: 強(qiáng)有力 時(shí)間: 2025-3-22 18:13 作者: 尋找 時(shí)間: 2025-3-22 22:19
Paracentric Inversion of Chromosome 21 Leading to Disruption of the , Gene in a Family with Holocars including metabolic acidosis, ketosis, and hyperammonemia. A majority of HLCS deficiency patients respond to biotin therapy; however, some patients show only a partial or no response to biotin therapy. Here, we report a neonatal presentation of HLCS deficiency with partial response to biotin thera作者: Graphite 時(shí)間: 2025-3-23 03:17 作者: DOTE 時(shí)間: 2025-3-23 08:50 作者: Accomplish 時(shí)間: 2025-3-23 13:28 作者: 不愿 時(shí)間: 2025-3-23 15:27 作者: 容易做 時(shí)間: 2025-3-23 22:05
Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intono acid transport. The patients often present with mild respiratory symptoms, which may rapidly progress to acute respiratory failure responding poorly to conventional treatment with steroids and bronchoalveolar lavations (BALs). The pathogenesis of PAP in LPI is still largely unclear. In previous s作者: temperate 時(shí)間: 2025-3-23 23:31 作者: galley 時(shí)間: 2025-3-24 05:25
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency,on a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developme作者: 安撫 時(shí)間: 2025-3-24 08:30 作者: 受傷 時(shí)間: 2025-3-24 14:43
Jun Sun,Angela J McGillivray,Jason Pinner,Zhihui Yan,Fengxia Liu,Drago Bratkovic,Elizabeth Thompson,netic relationships among the three extant orders, Anura (frogs), Caudata (salamanders), and Gymnophiona (caecilians). Several contradictory theories have been argued (Table I) [reviewed by Carroll and Holmes (1980); Gaffney (1979); Jarvik (1980); L?vtrup (1977); Saint-Au-bain (1981)]. At one extrem作者: incarcerate 時(shí)間: 2025-3-24 18:33 作者: BARK 時(shí)間: 2025-3-24 19:04
Annika Ohlsson,Helene Bruhn,Anna Nordenstr?m,Rolf H. Zetterstr?m,Anna Wedell,Ulrika von D?belncus on critical reviews, commentaries, original papers, and controversies in of the reviews range from anthropology to evolutionary biology. The topics molecular evolution, population biology to paleobiology. Recent volumes have included a broad spectrum of chapters on such subjects as population bi作者: 一罵死割除 時(shí)間: 2025-3-24 23:48 作者: 上腭 時(shí)間: 2025-3-25 03:44
Ashwini Maratha,Hugh-Owen Colhoun,Ina Knerr,Karen P. Coss,Peter Doran,Eileen P. Treacyce the mid-1960s. Nevertheless, our understanding of the mechanisms of phenotypic evolution is far less developed than our knowledge of molecular evolution. This fact is often attributed to the greater “complexity” of phenotypic characters, although it is not always clear what complexity means. More作者: hedonic 時(shí)間: 2025-3-25 08:18 作者: 民間傳說 時(shí)間: 2025-3-25 12:55 作者: Genistein 時(shí)間: 2025-3-25 17:21 作者: Guaff豪情痛飲 時(shí)間: 2025-3-25 20:42 作者: 拍下盜公款 時(shí)間: 2025-3-26 02:56 作者: RADE 時(shí)間: 2025-3-26 04:36 作者: genuine 時(shí)間: 2025-3-26 11:22
Ana Claudia Marquim F. Araújo,Wilma M. C. Araújo,Ursula M. Lanfer Marquez,Rita Akutsu,Eduardo Y. Nakossils has been quite sharply defined (e.g., Hennig, 1965; Schaeffer .., 1972; Nelson, 1978; Gaffney, 1979; Cracraft, 1979; Patterson, 1981a,b). The fossil record nevertheless provides useful data by refuting putative synapomorphies and by revealing nonhomology among living taxa, by suggesting seque作者: 薄膜 時(shí)間: 2025-3-26 16:12
Laura M. Tanner,Johanna Kurko,Maaria Tringham,Heikki Aho,Juha Mykk?nen,Kirsti N?nt?-Salonen,Harri Nickets live a relatively long time and continue to lay eggs, this distinction may become vague in warm climates. Even in such cases, however, the two categories can be recognized when the underlying developmental characteristics are experimentally analyzed. A life cycle that shows a more or less fixe作者: 馬具 時(shí)間: 2025-3-26 18:18
C. Bursle,A. Narendra,R. Chuk,J. Cardinal,R. Justo,B. Lewis,D. Comannd com- mentaries on evolution, in the broadest sense of that term. The topics of the reviews range from anthropology and behavior to molecular biology and systematics. In recent volumes, a broad spectrum of articles have appeared on such subjects as evolution of the bacterial genome, biochemical sy作者: Detain 時(shí)間: 2025-3-27 00:34 作者: Wernickes-area 時(shí)間: 2025-3-27 04:48 作者: 慢跑 時(shí)間: 2025-3-27 05:58 作者: 甜食 時(shí)間: 2025-3-27 12:45
978-3-662-55585-9Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017作者: 詞根詞綴法 時(shí)間: 2025-3-27 16:07
JIMD Reports, Volume 34978-3-662-55586-6Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 女歌星 時(shí)間: 2025-3-27 20:32 作者: Innocence 時(shí)間: 2025-3-27 23:21
JIMD Reportshttp://image.papertrans.cn/j/image/500072.jpg作者: condescend 時(shí)間: 2025-3-28 03:26 作者: 橫條 時(shí)間: 2025-3-28 07:03
Novel , Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder,eterozygous for two novel mutations in the . gene, who is less affected than previously reported patients with a defect in the . gene. Our findings indicate that . defects may cause a disease spectrum similar as previously observed for other . gene defects.作者: GLIDE 時(shí)間: 2025-3-28 11:55
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: 是他笨 時(shí)間: 2025-3-28 15:51
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hyp7208 c.49delC p.(Arg17Aspfs*57). Mutations in . have previously been shown to alter ribosome assembly and cause abnormal function of multiple respiratory chain complexes. Our case adds to the evolving knowledge of disorders of mitochondrial translation.作者: 美學(xué) 時(shí)間: 2025-3-28 22:26
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.978-3-662-55585-9978-3-662-55586-6Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: CHANT 時(shí)間: 2025-3-29 01:36 作者: 愚蠢人 時(shí)間: 2025-3-29 06:39 作者: Heresy 時(shí)間: 2025-3-29 08:53 作者: craving 時(shí)間: 2025-3-29 13:32
Katarzyna A. Ellsworth,Laura M. Pollard,Sara Cathey,Tim Woodve of the functional or adaptive differences between them. Essentially typological, its method goes back to the ideas of the German . and French transcendental schools of morphology (Russell, 1916), and it addresses the ordered diversity of forms from the perspective of internal organization.作者: 付出 時(shí)間: 2025-3-29 15:47 作者: 侵害 時(shí)間: 2025-3-29 22:36
C. Bursle,D. Brown,J. Cardinal,F. Connor,S. Calvert,D. Comanset, unpublished). Moreover, annual as well as nonannual species of killifish have evolved in both regions (Simpson, 1979). Whether these similarities are the result of common ancestry from a tropical Gondwanian stock or of striking evolutionary convergence is nonetheless questionable. What is certa作者: 關(guān)節(jié)炎 時(shí)間: 2025-3-30 02:56
Ashwini Maratha,Hugh-Owen Colhoun,Ina Knerr,Karen P. Coss,Peter Doran,Eileen P. TreacyGould and Eldredge, 1977; Kimura, 1983). Second, most phenotypic characters comprise many levels of organization from the molecular to the behavioral and the population level, and the rate of change is nonuniform across these levels of organization. Some attributes of the phenotype, such as color an作者: Myocarditis 時(shí)間: 2025-3-30 05:06 作者: gonioscopy 時(shí)間: 2025-3-30 10:30
M. M. Welsink-Karssies,J. A. W. Polderman,E. J. Nieveen van Dijkum,B. Preckel,W. S. Schlack,G. Visset descendents. Such studies are logically consistent but subject to distinctly tautological thinking. The use of nonbiochemical criteria to estimate phyletic relationships is inherent to classical morphological studies. However, verbal descriptions of organic complexity among diverse plants or anima作者: 文藝 時(shí)間: 2025-3-30 14:14
Shane C. Quinonez,Andrea H. Seeley,Cindy Lam,Thomas W. Glover,Bruce A. Barshop,Catherine E. Keegansignificance of species contents, and overall changes in levels of relative abundance between taxa, both within existing communities and within new communities. The possibility of correlating the appearance of new community groups, the appearance of new complex adaptations and of new higher taxa at 作者: Inscrutable 時(shí)間: 2025-3-30 18:21 作者: myopia 時(shí)間: 2025-3-30 23:04 作者: Collision 時(shí)間: 2025-3-31 01:48 作者: GEST 時(shí)間: 2025-3-31 05:45 作者: 等待 時(shí)間: 2025-3-31 13:02
