標(biāo)題: Titlebook: JIMD Reports, Volume 40; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI [打印本頁] 作者: FETID 時間: 2025-3-21 18:29
書目名稱JIMD Reports, Volume 40影響因子(影響力)
作者: indoctrinate 時間: 2025-3-21 23:57
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion,haracterised by elevated levels of homogentisic acid. Nitisinone (NTBC) is a benzoylcyclohexane-1,3-dione that reversibly inhibits the activity of the enzymatic step immediately prior to homogentisate dioxygenase, hence reducing the production of homogentisic acid. Thus it is thought that nitisinone作者: Detain 時間: 2025-3-22 02:27
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo , Gene Mutation, symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasti作者: finite 時間: 2025-3-22 08:37
Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Femaleon testing is often abnormal in patients with OTCD, liver failure is uncommon on presentation. A 13-month-old female with no significant past medical history presented with irritability, right arm weakness, and decreased appetite. Initial workup revealed hepatic dysfunction with an INR of 3.4, ammon作者: Cabg318 時間: 2025-3-22 11:06 作者: PAD416 時間: 2025-3-22 13:41 作者: VERT 時間: 2025-3-22 20:07
,Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the nts clearly cluster into two distinct groups: the patients with late diagnosis and start of therapy (.?=?46), who were born before 1993 when the national newborn screening programme was launched, and the screened babies (.?=?48) getting their diagnoses at least in a couple of weeks after birth..Alto作者: Range-Of-Motion 時間: 2025-3-23 00:40 作者: occurrence 時間: 2025-3-23 04:15
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiencytions in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels..The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the作者: 課程 時間: 2025-3-23 06:17
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Valute was normal. Serum triglycerides were markedly elevated and HDL cholesterol was very low. The urine organic acid analysis during the acute episode revealed a complex pattern of relative hypoketotic dicarboxylic aciduria, suggestive of a potential fatty acid oxidation disorder. MRI showed extensive作者: bleach 時間: 2025-3-23 10:43
Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria,–30% of PKU patients, Phe levels may be controlled by tetrahydrobiopterin (BH4) therapy. The European PKU 2017 Guidelines recommends treatment with BH4 for cases of proven long-term BH4 responsiveness, with a recommended dosage of Sapropterin 10–20?mg/kg/day..We report four young Irish patients with作者: ANN 時間: 2025-3-23 16:28
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Dcle, classically characterized by encephalopathy, profound psychomotor retardation, seizures, a spectrum of brain abnormalities and early death in childhood. Less common milder phenotypes with moderate cognitive impairment and long-term survival have been reported. In addition, heterozygous mutation作者: 拉開這車床 時間: 2025-3-23 21:48
Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in subsequent accumulation of the amino acids lysine, hydroxylysine, and tryptophan and their breakdown intermediates can be neurotoxic and particularly cause injury to the basal ganglia..Roughly 1 of 100,000 infants is affected with GA-1, and a common feature at birth is macrocephaly. Stress, such as作者: Adornment 時間: 2025-3-23 23:29 作者: scotoma 時間: 2025-3-24 02:33
Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Followinlohexanedione (NTBC) and correlate these with functional imaging as well as with tyrosine and phenylalanine-tyrosine (Phe:Tyr) ratios..: We retrospectively reviewed the medical records of three adult HT-1 patients with a particular focus on their FDG PET/CT brain scans, neuropsychiatric assessment (作者: CYT 時間: 2025-3-24 08:47 作者: degradation 時間: 2025-3-24 11:36 作者: 引導(dǎo) 時間: 2025-3-24 18:10 作者: 笨拙的你 時間: 2025-3-24 22:42
Wienke H. Galama,Sandra L. J. Verhaagen – van den Akker,Dirk J. Lefeber,Ilse Feenstra,Aad Verripsrse oligosaccharides that contain lactose at their reducing ends. By contrast, monotremes and marsupials—mammalian lineages that diverged from the lineage that led to eutherians about 190 and 160 million years ago, respectively—produce milk in which diverse oligosaccharides predominate and lactose i作者: resistant 時間: 2025-3-25 00:28 作者: manifestation 時間: 2025-3-25 03:31 作者: 腫塊 時間: 2025-3-25 07:45
M. Khedr,S. Judd,M. C. Briggs,A. T. Hughes,A. M. Milan,R. M. K. Stewart,E. A. Lock,J. A. Gallagher,Lhat the range of the spined toad, ., extends along the Mediterranean coast from France into the northwest of Italy. This species, and the common toad . engage in a unimodal hybrid zone, with . at the higher and . at the lower altitudes of the Ligurian Alps. The width of 24.0?km observed in the Itali作者: 一瞥 時間: 2025-3-25 12:18 作者: STING 時間: 2025-3-25 16:41
Bimal Patel,Surekha Pendyal,Priya S. Kishnani,Marie McDonald,Lauren Bailey, the unicast routing problem is to find the shortest path between two nodes in the network and the multicast routing problem is to find an optimal tree spanning the source and all the destinations. In recent years, both the shortest path routing and the multicast routing have been well addressed us作者: 忘恩負義的人 時間: 2025-3-25 23:05
C. Bursle,R. Weintraub,C. Ward,R. Justo,J. Cardinal,D. Coman, the unicast routing problem is to find the shortest path between two nodes in the network and the multicast routing problem is to find an optimal tree spanning the source and all the destinations. In recent years, both the shortest path routing and the multicast routing have been well addressed us作者: glucagon 時間: 2025-3-26 02:12 作者: 震驚 時間: 2025-3-26 06:18
Book 2018JIMD 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: 巨頭 時間: 2025-3-26 11:24 作者: 哀求 時間: 2025-3-26 14:07
978-3-662-57879-7Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018作者: 晚來的提名 時間: 2025-3-26 18:24
JIMD Reports, Volume 40978-3-662-57880-3Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 平項山 時間: 2025-3-27 00:37
Eva Morava,Matthias Baumgartner,Verena PetersUnique 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: 策略 時間: 2025-3-27 05:03
JIMD Reportshttp://image.papertrans.cn/j/image/500078.jpg作者: maverick 時間: 2025-3-27 07:52 作者: 字謎游戲 時間: 2025-3-27 13:19
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation,a genome wide exome sequencing. This is the first reported case of MTPD to undergo cardiac transplantation. We suggest that cardiac transplantation could be considered in the treatment of cardiomyopathy in MTPD.作者: 枯燥 時間: 2025-3-27 14:42 作者: BILK 時間: 2025-3-27 17:56 作者: angiography 時間: 2025-3-27 23:59 作者: strain 時間: 2025-3-28 06:02 作者: Inveterate 時間: 2025-3-28 09:25 作者: grudging 時間: 2025-3-28 13:54 作者: 高度贊揚 時間: 2025-3-28 17:04 作者: 陰險 時間: 2025-3-28 21:06
Bozena Didycz,Magdalena Nitecka,Miroslaw Bik-Multanowskis in different evolutionary lineages raise some problems in inferring function based on identification of a homologous gene in a different species. However, defensins are also an excellent model for studying the evolution of new functions following duplication and divergence of genes.作者: sleep-spindles 時間: 2025-3-29 02:52
M. Khedr,S. Judd,M. C. Briggs,A. T. Hughes,A. M. Milan,R. M. K. Stewart,E. A. Lock,J. A. Gallagher,Lly observed in ., therewith confirming a marked nuclear/mitochondrial discordance. The bufo-e3 and e6 haplogroups correspond to separate nuclear genetic lineages of . in the Alps and the Apennines, respectively. These groups engage in a wide zone of intergradation (109.3?km). . populations from the 作者: 粘連 時間: 2025-3-29 04:43
Hardo Lillev?li,Karit Reinson,Kai Muru,Kristi Simenson,ülle Murumets,T?nu M?ls,Katrin ?unapevolved through the Artificial Bee Colony (ABC) algorithm so the best candidate (global optimum) can be fitted into an actual circle within the edge-only image. An analysis of the incorporated exhausted-sources memory is executed in order to identify potential local optima i.e. other circles. The ov作者: Rotator-Cuff 時間: 2025-3-29 09:12 作者: Juvenile 時間: 2025-3-29 12:45
C. Bursle,R. Weintraub,C. Ward,R. Justo,J. Cardinal,D. Coman, we investigate a series of dynamic genetic algorithms to solve both the dynamic shortest path routing problem and the dynamic multicast routing problem in MANETs. The experimental results show that these specifically designed dynamic genetic algorithms can quickly adapt to environmental changes (i作者: Commission 時間: 2025-3-29 19:19 作者: 環(huán)形 時間: 2025-3-29 21:36
Abdulrahman Obaid,Marwan Nashabat,Majid Alfadhel,Ali Alasmari,Fuad Al Mutairi,Abdulrahman Alswaid,Ei作者: chalice 時間: 2025-3-30 02:42
I. Castro-Ferreira,Rute Carmo,Sérgio Estrela Silva,Otília Corrêa,Susana Fernandes,Susana Sampaio,Rod作者: 仔細檢查 時間: 2025-3-30 04:07 作者: 突變 時間: 2025-3-30 10:29 作者: 衍生 時間: 2025-3-30 14:33
B. Ryder,F. Moore,A. Mitchell,S. Thompson,J. Christodoulou,S. Balasubramaniam作者: 油膏 時間: 2025-3-30 18:17 作者: 序曲 時間: 2025-3-30 21:14
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion,s side effect of treatment and its resolution with cessation of NTBC. Repeat challenges with NTBC provoked symptoms, but introducing a low protein diet with low dose NTBC was successful in controlling plasma tyrosine levels and the patient remained free of symptoms when levels were below 600?μmol/L.作者: aesthetician 時間: 2025-3-31 04:39 作者: Antimicrobial 時間: 2025-3-31 08:46 作者: watertight, 時間: 2025-3-31 11:37
The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers ic control within last month prior to the follow-up visit in the outpatient clinic (.?=??0.72; .?=?0.0003). The mean .-score was significantly higher in patients with good metabolic control than in those with poorly controlled hyperphenylalaninemia (0.44 vs. ?1.12; .?=?0.00002). On contrary, the res
