標題: Titlebook: JIMD Reports - Case and Research Reports, 2012/2; SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited [打印本頁] 作者: Spring 時間: 2025-3-21 19:55
書目名稱JIMD Reports - Case and Research Reports, 2012/2影響因子(影響力)
書目名稱JIMD Reports - Case and Research Reports, 2012/2影響因子(影響力)學科排名
書目名稱JIMD Reports - Case and Research Reports, 2012/2網絡公開度
書目名稱JIMD Reports - Case and Research Reports, 2012/2網絡公開度學科排名
書目名稱JIMD Reports - Case and Research Reports, 2012/2被引頻次
書目名稱JIMD Reports - Case and Research Reports, 2012/2被引頻次學科排名
書目名稱JIMD Reports - Case and Research Reports, 2012/2年度引用
書目名稱JIMD Reports - Case and Research Reports, 2012/2年度引用學科排名
書目名稱JIMD Reports - Case and Research Reports, 2012/2讀者反饋
書目名稱JIMD Reports - Case and Research Reports, 2012/2讀者反饋學科排名
作者: 符合你規(guī)定 時間: 2025-3-21 21:21
Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism,ucose level was only 1.8 mmol/L. After discontinuation of oral feeding (stopping provision of dietary galactose), the bedside capillary blood glucose correlated with laboratory glucose concentrations. .: Biochemically the patient had CHI (blood glucose level 2.3 mmol/L with simultaneous serum insuli作者: 暴行 時間: 2025-3-22 01:41
Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietaon 3+ out of 4. On echocardiogram and electrocardiogram, the LVH had progressed as well. Initially, she was rejected for cardiac transplantation because of severe obesity. Therefore, a 900 cal, high protein diet providing 37% of total energy was prescribed during 4 months on which 10 kg weight loss 作者: 積習已深 時間: 2025-3-22 07:50 作者: GUMP 時間: 2025-3-22 12:09 作者: oblique 時間: 2025-3-22 15:07
Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of ,-Sulfocysteine in Urisamples using high performance liquid chromatography (HPLC). The analysis is based on precolumn derivatization with .-phthaldialdehyde (OPA) and separation on a C18 reverse phase column coupled to UV detection. The method was extended to human serum analysis and no interference with endogenous amino作者: 松果 時間: 2025-3-22 18:55 作者: Pathogen 時間: 2025-3-22 23:48 作者: magenta 時間: 2025-3-23 02:17 作者: 以煙熏消毒 時間: 2025-3-23 05:46 作者: epidermis 時間: 2025-3-23 13:04 作者: 證明無罪 時間: 2025-3-23 15:02 作者: GROSS 時間: 2025-3-23 20:22
Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children,D...: A total of 12,728 plasma and urine samples from patients suspected of having IEM were received from physicians all over Malaysia. Plasma amino acids quantitation using fully automated amino acid analyzer and identification of urinary organic acids using Gas Chromatography Mass Spectrometry (GC作者: Integrate 時間: 2025-3-24 00:38 作者: 縱欲 時間: 2025-3-24 05:11
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in t5. This missense mutation is likely to be pathogenic since it affects an amino acid residue that is highly conserved across species and is absent from the dbSNP and 1,000 genomes databases. Review of literature and comparison were made with previously reported cases of this recently identified mitoc作者: 節(jié)約 時間: 2025-3-24 09:10
Expanding the Spectrum of PMM2-CDG Phenotype,arian failure. Finally, the absence of any abnormal clinical or biological signs as for the case completes the clinical spectrum of PMM2-CDG at its extreme end, at the opposite of the supposed total lethality of the R141H homozygous status.作者: 去世 時間: 2025-3-24 14:15 作者: corpus-callosum 時間: 2025-3-24 17:46 作者: SOW 時間: 2025-3-24 22:52 作者: 無節(jié)奏 時間: 2025-3-25 00:17 作者: Range-Of-Motion 時間: 2025-3-25 04:50
Sandrine Vuillaumier-Barrot,Bertrand Isidor,Thierry Dupré,Christiane Le Bizec,Albert David,Nathalie zur versuchten Ausbeutung des Partners eingesetzt werden kann, sondern auch zur Bestrafung von Defekteuren. Ihnen kann in den Spielen nach ihrer Defektion die hohe kooperative Auszahlung entzogen werden. In Spielen mit vielen Beteiligten wirkt dieser Sanktionsmechanismus nicht eindeutig, weil nicht作者: Inferior 時間: 2025-3-25 10:01 作者: 俗艷 時間: 2025-3-25 12:32
Mashbat Bayarchimeg,Dunia Ismail,Amanda Lam,Derek Burk,Jeremy Kirk,Wolfgang Hogler,Sarah E Flanagan,作者: 易怒 時間: 2025-3-25 17:27
Christiaan P. Sentner,Kadir Caliskan,Wim B. Vletter,G. Peter A. Smit作者: 滲透 時間: 2025-3-25 21:56
Daniel T. Swarr,Beth Kaufman,Mark A. Fogel,Richard Finkel,Jaya Ganesh作者: 貪婪的人 時間: 2025-3-26 03:08 作者: 抵制 時間: 2025-3-26 07:41 作者: Legion 時間: 2025-3-26 10:20
Abdel Ali Belaidi,Sita Arjune,Jose Angel Santamaria-Araujo,J?rn Oliver Sass,Guenter Schwarz作者: Thymus 時間: 2025-3-26 12:55
Giuseppina Marra,Paolo Gilles Vercelloni,Alberto Edefonti,Gianantonio Manzoni,Maria Angela Pavesi,Gi作者: insolence 時間: 2025-3-26 18:21
Christineh N. Sarkissian,Alejandra Gamez,Patrick Scott,Jerome Dauvillier,Alejandro Dorenbaum,Charles作者: G-spot 時間: 2025-3-27 00:49 作者: 使高興 時間: 2025-3-27 04:08 作者: 似少年 時間: 2025-3-27 06:50 作者: 侵略者 時間: 2025-3-27 12:10 作者: Etymology 時間: 2025-3-27 13:49
SSIEMUnique 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: 誹謗 時間: 2025-3-27 21:35
JIMD Reportshttp://image.papertrans.cn/j/image/500043.jpg作者: Tonometry 時間: 2025-3-27 22:16 作者: GUILE 時間: 2025-3-28 03:47 作者: muffler 時間: 2025-3-28 08:20 作者: promote 時間: 2025-3-28 13:57
JIMD Reports - Case and Research Reports, 2012/2978-3-642-28096-2Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: Affirm 時間: 2025-3-28 14:58
Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias,ed for further metabolic investigations. We developed and validated a second-tier approach for NBS of homocystinurias by measuring the total homocysteine (tHcy) on the initial dried blood spot (DBS) samples to reduce the need for further investigation, and investigated newborn DBS homocysteine value作者: Grasping 時間: 2025-3-28 19:32
Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism,iency is an extremely rare form of galactosaemia, and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the newborn period. Galactosaemia has not previously been reported in a neonate with concomitant CHI...: To report the fi作者: PALMY 時間: 2025-3-28 23:04 作者: 外貌 時間: 2025-3-29 05:07
,Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease, with or without left ventricular outflow tract obstruction that typically leads to death from cardiorespiratory failure in the first year of life. Glycogen deposition tends to be uniform, and is only occasionally accompanied by patchy areas of fibrosis. Here, we present an infant identified with bi作者: 眼界 時間: 2025-3-29 08:01 作者: 本土 時間: 2025-3-29 12:05
Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience,cy (maternal levels 68–96 μmol/l, target level 30–60 μmol/l). Tyrosine levels during pregnancy were between 500 and 693 μmol/l (normal values 20–120 μmol/l) and phenylalanine levels between 8 and 39 μmol/l (normal values 30–100 μmol/l). Nitisinone was measurable in neonatal blood immediately after b作者: Nuance 時間: 2025-3-29 18:07 作者: 盡管 時間: 2025-3-29 23:26 作者: conspicuous 時間: 2025-3-30 00:03
Alkaptonuria: Leading to the Treasure in Exceptions,rrod’s errors of metabolism. Bateson’s advice to young scientists: “Treasure your exceptions!” summarizes much of the vigorous empiricism associated with the study of rare disorders..The first inborn error of metabolism to be so recognized was alkaptonuria, and it is only recently that a proper unde作者: 圣歌 時間: 2025-3-30 07:25
Chaperone-Like Therapy with Tetrahydrobiopterin in Clinical Trials for Phenylketonuria: Is Genotypepeutic response to daily doses of sapropterin dihydrochloride (sapropterin, KUVAN.). Responsive patients were then enrolled in two subsequent Phase III clinical trials to examine safety, ability to reduce blood Phenylalanine levels, dosage (5–20 mg/kg/day) and response, and bioavailability of saprop作者: 我悲傷 時間: 2025-3-30 09:11
Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy, was described as fish-like. Urinary trimethylamine (TMA) was measured and found to be markedly increased. DNA mutation analysis revealed homozygosity for a common allelic variant in the gene coding for the TMA oxidising enzyme FMO3. Without changing diet or betaine therapy, riboflavin was given at 作者: optic-nerve 時間: 2025-3-30 14:56
Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hzyme iduronate-2-sulfatase. Unlike enzyme replacement therapy with idursulfase in children, there is limited long-term experience in adult patients with Morbus Hunter..The case presented here describes the development of a man born in 1971 who was admitted to Hemer Lung Clinic in 2005 with severe ob作者: 幻想 時間: 2025-3-30 19:31 作者: cultivated 時間: 2025-3-30 21:13
A Rare Galactosemia Complication: Vitreous Hemorrhage,oagulation factors and evidence of liver disease are associated with coagulopathy in galactosemic infants. We report a case of a neonate with galactosemia presenting with bilateral vitreous hemorrhage (VH). During the follow-up, hemorrhage in the right eye resolved; however, it persisted in the left作者: 膽小鬼 時間: 2025-3-31 03:25
Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrudegeneration and death within the first 2 years of life. Rarely it may lack the characteristic symptom-free period and initially manifest prenatally or in the neonatal period. The early course of neonatal onset classic type 2 variants is not well known, and reports of early histological changes in t作者: 眨眼 時間: 2025-3-31 06:51 作者: Entrancing 時間: 2025-3-31 11:43
Severe Infusion Reactions to Fabry Enzyme Replacement Therapy: Rechallenge After Tracheostomy,sponse. Infusion reactions, initially mild and easily managed, commenced during his 13th infusion, and continued over the next 3 years. Severity of reactions subsequently increased despite very slow infusion, extended prophylactic medication and attempted desensitisation, requiring regular intensive作者: 豐滿有漂亮 時間: 2025-3-31 14:53 作者: 喚起 時間: 2025-3-31 20:07 作者: overture 時間: 2025-3-31 22:45 作者: Spina-Bifida 時間: 2025-4-1 05:22
Z Md. Yunus,DP Abg Kamaludin,M Mamat,Y S Choy,LH Nguution in the laboratory, this issue can be approached by using an unusual organism, “Dark-fly”: .Drosophila melanogaster. kept in complete darkness for 57 years through 1,400 generations, which corresponds to 28,000 years in terms of human generations. Has Dark-fly adapted to an environment of total作者: 多樣 時間: 2025-4-1 06:09
K. Nicholls,K. Bleasel,G. Beckerrphologically into a group of strongly eye- and pigment-reduced (SEP) cave populations and another one characterized by variable eye size and pigmentation (VEP cave populations). Molecular and biogeographic data imply that they derive from the Neotropic . surface fish, which were able to invade Nort作者: 嬉耍 時間: 2025-4-1 13:24
S. Balasubramaniam,Y. S. Choy,A. Talib,M. D. Norsiah,L. P. van den Heuvel,R. J. Rodenburg für die Entwicklung meiner eigenen Computersimulation in Kapitel sechs. Aus spieltheoretischer Sicht bilden zwei Individuen die kleinste m?gliche Gruppe. Bei dem Problem der Kooperationsentstehung unter wesentlich mehr als zwei Individuen existieren grundlegende Unterschiede bezüglich der Vorausset作者: 煤渣 時間: 2025-4-1 17:38 作者: Entreaty 時間: 2025-4-1 19:00
Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failurne found in the peno-scrotal junction of the bulbar urethra. Stone spectrophotometric analysis allowed us to diagnose the disease and start kidney-saving therapy in order to avoid irreversible chronic kidney damage. APRT deficiency should always be considered in the differential diagnosis of pediatric urolithiasis.
