作者: Arboreal 時(shí)間: 2025-3-22 00:15
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.978-3-662-55011-3978-3-662-55012-0Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: FRAX-tool 時(shí)間: 2025-3-22 04:10 作者: 發(fā)怨言 時(shí)間: 2025-3-22 06:28
Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive processing, and MD in the PPO mediated the relationship between Phe exposure and working memory. These exploratory findings demonstrate the importance of using sophisticated modeling procedures to understand the interplay among metabolic control, neural factors, and functional outcomes in individuals with PKU.作者: Additive 時(shí)間: 2025-3-22 09:30
Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?,ns beyond the first report of PCH6 by Edvardson and colleagues. We propose to classify .-associated phenotypes as an early onset mitochondrial encephalopathy, since this is more in agreement with both clinical presentation and underlying genetic cause.作者: Dri727 時(shí)間: 2025-3-22 13:09
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency,of disease. We conclude that (1) not all cases of CPT-II deficiency are currently detected through newborn screening, even when blood is appropriately collected on day 2 of life and (2) CPT-II deficiency should be kept on the differential for patients presenting with rhabdomyolysis, even if the newborn screening results were normal.作者: MIR 時(shí)間: 2025-3-22 17:38 作者: ARCH 時(shí)間: 2025-3-23 00:55
JIMD Reports, Volume 33978-3-662-55012-0Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 反饋 時(shí)間: 2025-3-23 04:55
Eva Morava (Editor-in-Chief),Matthias Baumgartner,Unique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed作者: 指耕作 時(shí)間: 2025-3-23 08:00
JIMD Reportshttp://image.papertrans.cn/j/image/500071.jpg作者: 全部逛商店 時(shí)間: 2025-3-23 12:31
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: 牌帶來(lái) 時(shí)間: 2025-3-23 16:50
https://doi.org/10.1007/978-3-662-55012-0inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic 作者: Kindle 時(shí)間: 2025-3-23 21:28 作者: 招惹 時(shí)間: 2025-3-24 01:01
Camelia Alkhzouz,Cecilia Lazea,Simona Bucerzan,Ioana Nascu,Eva Kiss,Carmencita Lucia Denes,Paula Gri作者: nonradioactive 時(shí)間: 2025-3-24 03:28 作者: Antecedent 時(shí)間: 2025-3-24 09:43
Christoph Kampmann,Christiane M. Wiethoff,Ralf G. Huth,Gundula Staatz,Eugen Mengel,Michael Beck,Stef作者: 小畫(huà)像 時(shí)間: 2025-3-24 10:58 作者: 施魔法 時(shí)間: 2025-3-24 17:46 作者: Herd-Immunity 時(shí)間: 2025-3-24 22:52 作者: 職業(yè)拳擊手 時(shí)間: 2025-3-25 01:13 作者: invulnerable 時(shí)間: 2025-3-25 03:32 作者: Concerto 時(shí)間: 2025-3-25 10:01
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease,FOIS)..Results indicate, initial diagnosis VFSS predicts long-term feeding outcomes. Even if a patient had an improvement in oral feeding after diagnosis, over a period of time their oral intake returned to the initial diagnosis VFSS level or below. All patients (8/8) who required non-oral feeding s作者: vascular 時(shí)間: 2025-3-25 14:37 作者: 壓倒性勝利 時(shí)間: 2025-3-25 19:28 作者: CRP743 時(shí)間: 2025-3-25 21:00
,The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-partum management required a coordinated team approach including a high-calorie and restricted diet to reduce the risk of acute metabolic decompensation. During the induced labour she required 10% dextrose infusions..Post-partum it took the mother a long time to recover from childbirth – her appetit作者: 感情脆弱 時(shí)間: 2025-3-26 02:02 作者: 洞察力 時(shí)間: 2025-3-26 06:20 作者: 不能逃避 時(shí)間: 2025-3-26 12:13
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic , Mutations: Further Cases and Impln heterozygous form in patients with familial paraganglioma/pheochromocytoma and/or renal cell cancer. This is only the second example in the literature where one specific . mutation is associated with both recessive mitochondrial disease in one patient and familial paraganglioma/pheochromocytoma in作者: Spina-Bifida 時(shí)間: 2025-3-26 14:53 作者: 江湖郎中 時(shí)間: 2025-3-26 20:07 作者: oxidant 時(shí)間: 2025-3-26 22:20 作者: moribund 時(shí)間: 2025-3-27 03:03
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusua作者: ETHER 時(shí)間: 2025-3-27 09:08
Sabine Gr?nborg,Niklas Darin,Maria J. Miranda,Bodil Damgaard,Jorge Asin Cayuela,Anders Oldfors,Gittaical discussion; for mathematical analysis see Sawyer and Hartl (1981)]. According to the ., isolating mechanisms arise as incidental by-products of adaptive genetic divergence in allopatry (Darwin, 1859; Muller, 1942; Mayr, 1942; Patterson and Stone, 1952). Recent attempts to reconcile these two op作者: languor 時(shí)間: 2025-3-27 12:30
Christopher Newell,Barbara Ramage,Alberto Nettel-Aguirre,Ion Robu,Aneal Khanlogy and evolution of . that I will not address (Parsons, 1980, 1981; Barker and Starmer, 1982). In this review I have attempted to develop a critical review of certain major topics and, I hope, unify certain disparate observations rather than be comprehensive in my citations. To all those whose wor作者: Prognosis 時(shí)間: 2025-3-27 15:29
Tessa van Dijk,Fred van Ruissen,Bregje Jaeger,Richard J. Rodenburg,Saskia Tamminga,Merel van Maarle,es, the assumption that females should not mate multiply because they cannot increase offspring numbers by doing so appears questionable. Importantly, since females have greater potential than males to influence the quality of their offspring, and investment in current reproduction has consequences 作者: 束縛 時(shí)間: 2025-3-27 20:16 作者: 貧窮地活 時(shí)間: 2025-3-28 00:16 作者: 有害 時(shí)間: 2025-3-28 04:11
Andrew C. Edmondson,Jennifer Salant,Lynne A. Ierardi-Curto,Can Ficicioglu(McManus, 1992; Palmer, 1986), and patterns of sexual selection (Manning and Chamberlain, 1993, 1994; M?ller, 1990, 1991, 1992. M?ller and Hoglund, 1991; M?ller and Pomiankowski, 1993.; Packer and Pusey, 1993; Polak, 1993; Polak and Markow, 1995; Swaddle, 1996; Swaddle and Witter, 1995; Thornhill, 1作者: REP 時(shí)間: 2025-3-28 08:36 作者: harbinger 時(shí)間: 2025-3-28 13:46
Sabine Gr?nborg,Niklas Darin,Maria J. Miranda,Bodil Damgaard,Jorge Asin Cayuela,Anders Oldfors,Gittaerties of species (Mayr, 1970; Dobzhansky .., 1977) or of sympatric individuals of different adaptive systems (Littlejohn, 1980). Yet, whereas their nature is quite well known, their mode of origin, particularly of premating as opposed to postmating mechanisms, still remains largely obscure and cont作者: 中子 時(shí)間: 2025-3-28 15:54 作者: Heart-Rate 時(shí)間: 2025-3-28 20:27 作者: indubitable 時(shí)間: 2025-3-29 01:16 作者: Anthem 時(shí)間: 2025-3-29 04:50 作者: 褲子 時(shí)間: 2025-3-29 08:04 作者: condemn 時(shí)間: 2025-3-29 15:08
Shanti Balasubramaniam,B. Lewis,D. M. Mock,H. M. Said,M. Tarailo-Graovac,A. Mattman,C. D. van Karnebaries on evolution, in the bro~dest 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 natural selection among replicating molecules in vitro, mate 作者: Engulf 時(shí)間: 2025-3-29 18:34
Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Distudies published in Japanese and 1 published in English, focusing on the difficulties they encounter in daily life, the factors associated with these difficulties, and their QoL. We divided the difficulties and associated factors into three developmental stages. At the infant stage, individuals with作者: 微生物 時(shí)間: 2025-3-29 19:52 作者: 檢查 時(shí)間: 2025-3-30 02:06 作者: 用手捏 時(shí)間: 2025-3-30 08:03 作者: placebo 時(shí)間: 2025-3-30 09:38 作者: chisel 時(shí)間: 2025-3-30 13:22
Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive ildren with phenylketonuria (PKU; . = 36). To do so, we examined mean diffusivity (MD) from diffusion tensor imaging (DTI) in two white matter brain regions (posterior parietal–occipital, PPO; centrum semiovale, CSO) and lifetime phenylalanine (Phe) exposure; the executive abilities examined include作者: 我不死扛 時(shí)間: 2025-3-30 18:53 作者: 異端 時(shí)間: 2025-3-31 00:21
Novel Homozygous Missense Mutation in , Gene Results in Troyer Syndrome Associated with Mitochondriase is associated with a loss of function mechanism of spartin, the protein encoded by ., the precise pathogenesis is yet to be elucidated. Recent data indicated an important role for spartin in both mitochondrial maintenance and function. Here we report a child presenting with progressive spastic p作者: Initial 時(shí)間: 2025-3-31 01:35
Lethal Neonatal LTBL Associated with Biallelic , Variants: Case Report and Review of the Reported Nciency) signature and neuroimaging are usually distinctive, they are not diagnostic as the genetic origin of mitochondrial translation defects is heterogeneous. We report a female child, born at term to non-consanguineous parents, who exhibited global hypotonia, failure to thrive, persistent and pro作者: IRK 時(shí)間: 2025-3-31 06:39 作者: 光明正大 時(shí)間: 2025-3-31 10:01
Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other developed a novel assessment, peak jump power (PJP), and related this to ambulatory ability in patients either having a known or suspected underlying rare disease. From adults and children, we recruited 88 healthy controls and 115 patients (61 with mitochondrial disease and 54 with another diagnosis作者: magnate 時(shí)間: 2025-3-31 15:32
Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?,nts, compound heterozygous for . mutations, presenting with early onset epileptic encephalopathy and (progressive) atrophy of both supra- and infratentorial structures. Early pontocerebellar hypoplasia was virtually absent and respiratory chain (RC) defects could not be detected in muscle biopsies. 作者: 季雨 時(shí)間: 2025-3-31 19:43 作者: MAUVE 時(shí)間: 2025-3-31 22:56
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemive disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfil the stringent diagnostic criteria but have features resembling Leigh syndrome..We describe a unique presentation of Leigh-like syndrome in a 3-year-作者: 嫌惡 時(shí)間: 2025-4-1 03:44
Die Umweltprobleme der Industrie,Staub- und gasf?rmige Luftverunreinigungen — M?glichkeiten der Abgasreinigung — Wasserverunreinigungen und Abhilfema?nahmen — L?rmentstehung und -bek?mpfung — Umwelteinflüsse durch Kernkraftwerke.
