標(biāo)題: Titlebook: JIMD Reports, Volume 35; 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: vitamin-D 時(shí)間: 2025-3-21 16:15
書(shū)目名稱JIMD Reports, Volume 35影響因子(影響力)
作者: RENAL 時(shí)間: 2025-3-21 20:15
,Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital,id (CSF) pressure. The only symptomatic child presented an Arnold–Chiari anomaly with enlarged ventricles, whereas the other three, all asymptomatic, were diagnosed by scheduled fundoscopy and had normal neuroimaging studies. All four patients had at least one known risk factor for developing intrac作者: Fantasy 時(shí)間: 2025-3-22 04:16
,Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–N and review, we hypothesize that sudden death from respiratory failure in Lesch–Nyhan disease may in some cases be due to seizure-induced respiratory failure, akin to sudden unexpected death in epilepsy (SUDEP). We suggest screening for paroxysmal respiratory events; consideration of electroencephal作者: 草率男 時(shí)間: 2025-3-22 08:16
Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient,ways in the normal range..To date, placement of a subcutaneous catheter to minimize the pain related to parenteral vitamin B12 punctures has been described only in a patient with deficiency of the enzyme methylmalonyl-CoA mutase (MUT). No other experiences are described in the literature..Our case s作者: 他一致 時(shí)間: 2025-3-22 09:46
Previously Unreported Biallelic Mutation in , Are Sensorineural Hearing Loss and Basal Ganglia Lesid intentional tremor and dyskinesia, spasticity (particularly at the lower extremities), and dystonia were observed. Sensorineural hearing loss was also diagnosed. MRI showed bilateral basal ganglia signal alterations. Plasma lactate levels were increased, as was urinary excretion of 3-methylglutaco作者: catagen 時(shí)間: 2025-3-22 15:54 作者: 一個(gè)攪動(dòng)不安 時(shí)間: 2025-3-22 17:04 作者: Ballad 時(shí)間: 2025-3-22 23:48 作者: 刻苦讀書(shū) 時(shí)間: 2025-3-23 04:24 作者: Glycogen 時(shí)間: 2025-3-23 06:24 作者: armistice 時(shí)間: 2025-3-23 11:55
Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and n solution (analogous to AKU patient urine) is not initially due to presence of ochronotic pigment but the quinone intermediary. In addition, we observed that pigment formation from HGA can occur in the presence of tyrosine, without the inclusion of this tyrosine into the pigment. These observations作者: Glucocorticoids 時(shí)間: 2025-3-23 17:02
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis,essed. Mean BMD Z-scores in the CG population were LBMD ?0.70 (95% CI: ?0.88, ?0.52); HBMD ?0.89 (95% CI: ?1.14, ?0.64); and FBMD ?0.63 (95% CI ?1.29, 0.02). Results from studies included in the descriptive analysis (.?=?7) show that vitamin D levels were frequently in the low reference range, where作者: ALOFT 時(shí)間: 2025-3-23 19:49 作者: 指耕作 時(shí)間: 2025-3-24 00:31
White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuriae. The largest difference in volume between the twins was found in the thalami. The total gray and white matter volumes decreased in the affected twin. In diffusion tensor imaging analysis, the fractional anisotropy was decreased at onset in the affected twin compared to the healthy brother in the e作者: 提煉 時(shí)間: 2025-3-24 06:07
ew York, Flushing, New York 11367; Bruce Wallace, Department of Genetics, Cornell University, Ithaca, New York 14850; Ghillean T. Prance, New York Botanical Garden, Bronx, New York 10458. The Editors vii Contents 1. Some Relationships between Density-Independent Selection and Density-Dependent Population Grow978-1-4615-6964-0978-1-4615-6962-6作者: 孤僻 時(shí)間: 2025-3-24 06:54
Austin Larson,James D. Weisfeld-Adams,Tim A. Benke,Penelope E. Bonnencleaning appendages (the seventh limbs) and to obtain as much space as possible for the parasite’s own eggs/embryos at the sacrifice of the mother’s mobility. The synchronization between the timing of metamorphosis of the parasite and the reproductive cycle of the host animal can be expected to guar作者: 周年紀(jì)念日 時(shí)間: 2025-3-24 13:34
Sarah U. Morton,Edward G. Neilan,Roy W. A. Peake,Jiahai Shi,Klaus Schmitz-Abe,Meghan Towne,Kyriacos complex evolutionary signals of heterotachy. The presence of such signals has important consequences for the correct reconstruction of phylogenies as well as for tests of hypotheses that rely on accurate branch length information. These include molecular clocks, analyses of tempo and mode of evolut作者: 使人煩燥 時(shí)間: 2025-3-24 16:27 作者: 昆蟲(chóng) 時(shí)間: 2025-3-24 20:05 作者: Indurate 時(shí)間: 2025-3-25 00:18 作者: Monolithic 時(shí)間: 2025-3-25 04:46 作者: 過(guò)分 時(shí)間: 2025-3-25 08:09 作者: Ethics 時(shí)間: 2025-3-25 13:14 作者: 青石板 時(shí)間: 2025-3-25 16:39
Callum Wilson,Detlef Knoll,Mark de Hora,Campbell Kyle,Emma Glamuzina,Dianne Websterhose events that induce rapid changes in genetic expression and/or that determine reproductive isolation, such as substitutions, insertions, deletions, duplications, transpositions, gross chromosomal rearrangements, recombination and, in general, any mechanism that changes the regulatory pattern of the organi978-3-642-74527-0978-3-642-74525-6作者: follicle 時(shí)間: 2025-3-25 20:31 作者: 過(guò)剩 時(shí)間: 2025-3-26 00:15 作者: Isthmus 時(shí)間: 2025-3-26 07:57
Damien Bouvier,Christine Vianey-Saban,Séverine Ruet,Cécile Acquavivas that induce rapid changes in genetic expression and/or that determine reproductive isolation, such as substitutions, insertions, deletions, duplications, transpositions, gross chromosomal rearrangements, recombination and, in general, any mechanism that changes the regulatory pattern of the organi作者: colony 時(shí)間: 2025-3-26 11:45
Adam M. Taylor,Koen P. Vercruyssethan the full history, of the early mammalian fauna of a southern land mass that has changed its geological affinities profoundly since the Jurassic. I shall not be much concerned with the effects of reconnection of South with Central America during the Pliocene. For discussions of the resulting “Gr作者: deciduous 時(shí)間: 2025-3-26 15:31 作者: 方便 時(shí)間: 2025-3-26 18:32 作者: fabricate 時(shí)間: 2025-3-26 22:32
Tokola Anna,Brandstack Nina,Hakkarainen Antti,Salli Eero,?berg Laura,Autti Taina have been ancestral to the platyrrhine primates (Sarich, 1970; Hoffstetter, 1972, 1974; Lavocat, 1974; Cronin and Sarich, 1975). Indeed, recent geological evidence (see Tarling, this volume) indicates that an immigration of primates into South America from Africa would be quite as feasible during t作者: Systemic 時(shí)間: 2025-3-27 01:24 作者: thyroid-hormone 時(shí)間: 2025-3-27 05:25 作者: Acquired 時(shí)間: 2025-3-27 12:47 作者: 公司 時(shí)間: 2025-3-27 16:29
JIMD Reportshttp://image.papertrans.cn/j/image/500073.jpg作者: 描述 時(shí)間: 2025-3-27 20:00 作者: Cholagogue 時(shí)間: 2025-3-27 22:05 作者: 無(wú)力更進(jìn) 時(shí)間: 2025-3-28 02:32 作者: Insufficient 時(shí)間: 2025-3-28 07:19
JIMD Reports, Volume 35978-3-662-55833-1Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: BRAWL 時(shí)間: 2025-3-28 12:00 作者: athlete’s-foot 時(shí)間: 2025-3-28 16:58
Austin Larson,James D. Weisfeld-Adams,Tim A. Benke,Penelope E. Bonnen video and SEM observations. During its lifetime, . dramatically metamorphoses several times, changing sex from male to female in the final host’s carapace. At nearly the last ontogenetical stage, the parasite anchors its body with a pair of thoracopods to the posterodorsal region of the host ostrac作者: 一致性 時(shí)間: 2025-3-28 19:46 作者: duplicate 時(shí)間: 2025-3-29 01:12 作者: Complement 時(shí)間: 2025-3-29 03:24
Alison Christy,William Nyhan,Jenny Wilsone history. . or the subtribe Carabina, is a member of the subfamily Carabinae of the coleopteran family Carabidae. . beetles are flightless owing to the degeneration of the hind wings and have diversified into nearly 1000 species in the Holarctic region, mostly in Eurasia. This species diversity is 作者: 單色 時(shí)間: 2025-3-29 08:56
E. Maines,G. Morandi,G. Gugelmo,F. Ion-Popa,N. Campostrini,A. Pasini,M. Vincenzi,F. Teofoli,M. Camile history. . or the subtribe Carabina, is a member of the subfamily Carabinae of the coleopteran family Carabidae. . beetles are flightless owing to the degeneration of the hind wings and have diversified into nearly 1000 species in the Holarctic region, mostly in Eurasia. This species diversity is 作者: deceive 時(shí)間: 2025-3-29 14:57
Gerarda Cappuccio,Paldeep S. Atwal,Taraka R. Donti,Kiki Ugarte,Nadia Merchant,William J. Craigen,V. ough to merit comparison in spite of the differences in technique. The procedure involved in my own studies consisted principally of two criteria (Warburg 1964), firstly, the behaviour of an individual and secondly, the behaviour of a small group of animals (up to 10). With the first criterion I use作者: Forage飼料 時(shí)間: 2025-3-29 15:54 作者: 分發(fā) 時(shí)間: 2025-3-29 21:19 作者: 離開(kāi)就切除 時(shí)間: 2025-3-30 00:17 作者: 遺傳 時(shí)間: 2025-3-30 05:35 作者: glamor 時(shí)間: 2025-3-30 11:19
S. Varma,A. D. McIntyre,R. A. Hegelepopulations. A transient, unstable population should be under- stood as a fast episodic phase in a population subjected to genetic and environmental factors that tend to disrupt its cohesive, balanced genome architecure, thus enhancing its probability to produce a new species. Striking the core of D作者: 為現(xiàn)場(chǎng) 時(shí)間: 2025-3-30 14:34 作者: 組成 時(shí)間: 2025-3-30 18:35 作者: 刺耳 時(shí)間: 2025-3-30 21:36
Britt van Erven,Lindsey Welling,Sandra C. van Calcar,Artemis Doulgeraki,Fran?ois Eyskens,Joanna Gribarth sciences," researchers began applying the continental drift model to problems in historical biogeography. One such problem was the origin and dispersal of the New World monkeys, the Platyrrhini. Our interests in this subject began in the late 1960s on different conti- nents quite independent of作者: 四溢 時(shí)間: 2025-3-31 03:24 作者: WITH 時(shí)間: 2025-3-31 07:57
Tokola Anna,Brandstack Nina,Hakkarainen Antti,Salli Eero,?berg Laura,Autti Taina higher primates suggest that these forms and the platyrrhines are each monophyletic, but the nature and origin of common ancestral groups remains in doubt. It has been hypothesized that the Platyrrhini evolved from a lemuroid stock (Liedy, 1873; Loomis, 1911; Gregory, 1920, 1921; Gingerich, 1973, 1作者: 手榴彈 時(shí)間: 2025-3-31 09:30 作者: Collision 時(shí)間: 2025-3-31 16:28 作者: OTTER 時(shí)間: 2025-3-31 21:34
Hyperammonemia as a Presenting Feature in Two Siblings with , Variants, delay. Sequence variants in the nuclear-encoded gene . have been previously demonstrated to be a cause of early-onset mitochondrial encephalomyopathy in several unrelated families. We have identified a pair of siblings with mutations in . who each presented in the neonatal period with hyperammonemi作者: STANT 時(shí)間: 2025-4-1 01:09 作者: 同來(lái)核對(duì) 時(shí)間: 2025-4-1 05:30 作者: 托運(yùn) 時(shí)間: 2025-4-1 07:31
Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient,ynthesis. Hydroxocobalamin (OHCbl) is the cornerstone of cblA treatment because vitamin B12 may completely restore AdoCbl deficiency. Parenteral administration, intravenous, subcutaneous or intramuscular, is generally required to achieve effect. Daily injections represent a problem for the parents a
