標(biāo)題: Titlebook: JIMD Reports, Volume 18; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men [打印本頁] 作者: digestive-tract 時(shí)間: 2025-3-21 17:04
書目名稱JIMD Reports, Volume 18影響因子(影響力)
作者: 溝通 時(shí)間: 2025-3-21 20:52
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.978-3-662-44862-5978-3-662-44863-2Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 意外的成功 時(shí)間: 2025-3-22 04:22 作者: Emg827 時(shí)間: 2025-3-22 07:24 作者: 浮雕寶石 時(shí)間: 2025-3-22 08:51 作者: Coterminous 時(shí)間: 2025-3-22 16:16
JIMD Reportshttp://image.papertrans.cn/j/image/500056.jpg作者: 到婚嫁年齡 時(shí)間: 2025-3-22 20:01 作者: 編輯才信任 時(shí)間: 2025-3-22 23:37 作者: Ganglion-Cyst 時(shí)間: 2025-3-23 01:35
Adrian Quartel,Christian J. Hendriksz,Rossella Parini,Sue Graham,Ping Lin,Paul Harmatz作者: ARENA 時(shí)間: 2025-3-23 09:30
Sumaira Malik,Sinead NiMhurchadha,Christina Jackson,Lina Eliasson,John Weinman,Sandrine Roche,John W作者: 讓步 時(shí)間: 2025-3-23 10:34
Richard D. Beegle,Laurie M. Brown,David A. Weinstein作者: FLOUR 時(shí)間: 2025-3-23 15:35
A. Ferrand,V. M. Siu,C. A. Rupar,M. P. Napier,O. Y. Al-Dirbashi,P. Chakraborty,C. Prasad作者: badinage 時(shí)間: 2025-3-23 20:19 作者: 巨碩 時(shí)間: 2025-3-23 23:32 作者: curettage 時(shí)間: 2025-3-24 05:21
Gianluigi Mazzoccoli,Tommaso Mazza,Manlio Vinciguerra,Stefano Castellana,Maurizio Scarpa作者: LIMIT 時(shí)間: 2025-3-24 07:24 作者: 燒烤 時(shí)間: 2025-3-24 12:49
Danique van Vliet,Esther van Dam,Margreet van Rijn,Terry G. J. Derks,Gineke Venema-Liefaard,Marrit M作者: kyphoplasty 時(shí)間: 2025-3-24 16:55
Amy Brown,Louise Crowe,Miriam H. Beauchamp,Vicki Anderson,Avihu Boneh作者: 看法等 時(shí)間: 2025-3-24 21:24
Allan Bayat,Mette Christensen,Flemming Wibrand,Morten Duno,Allan Lund作者: lymphoma 時(shí)間: 2025-3-24 23:41
,Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome),5th, 50th, 75th, 90th, and 95th percentiles were constructed for patients with rapidly and slowly progressing disease defined by the pre-enzyme replacement therapy (ERT) uGAG levels of > or ≤200?μg/mg creatinine. The mean (SD) pre-ERT uGAG levels were 481.0 (218.6) and 97.8 (56.3) μg/mg creatinine f作者: 有抱負(fù)者 時(shí)間: 2025-3-25 06:00 作者: 衰老 時(shí)間: 2025-3-25 11:27 作者: catagen 時(shí)間: 2025-3-25 15:36 作者: 離開 時(shí)間: 2025-3-25 19:28
,Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telepnd after adjusting for multiple covariates using generalized estimating equations. The composite scores of FD cases were marginally lower than controls before covariate adjustments (.?=?0.08). QOL and mental health variables substantially attenuated this finding (.?=?0.75), highlighting the influenc作者: bypass 時(shí)間: 2025-3-25 20:06
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in , in Families with Tang intronic variant (c.4176-11T>G), that lead to the creation of a cryptic splice site acceptor and premature truncation, p.Ser1392Argfs*6. We demonstrate that this mutation arose de novo, the first demonstration of a pathogenic de novo mutation in . associated with Tangier disease. We also report res作者: propose 時(shí)間: 2025-3-26 02:26
Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioransplantation was uncomplicated with full engraftment of donor cells in both..Both patients showed progressive neurological deterioration with regression of cognitive skills and behavioral disturbances during 5 years after successful UCBT, comparable to the natural history of patients with the same 作者: Headstrong 時(shí)間: 2025-3-26 07:16
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A TreatablThe third patient, a 34-year-old woman, had presented in infancy with a diagnosis of pernicious anemia. Mutation analysis of . revealed compound heterozygosity for a c.79+1G>A substitution and a c.973delG deletion in all three individuals. Oral or parenteral vitamin B. has led to complete recovery o作者: Aggregate 時(shí)間: 2025-3-26 12:15
A Cause of Permanent Ketosis: GLUT-1 Deficiency,o the deficient cerebral glucose transport by permanent ketone body production since early life. Excessive ketone body production in this patient provided an alternative energy substrate for his brain. We suggest a cerebral metabolic adaptation with upregulation of monocarboxylic acid transporter pr作者: 手榴彈 時(shí)間: 2025-3-26 14:11 作者: 戰(zhàn)勝 時(shí)間: 2025-3-26 16:48
The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases,cadian transcripts suggesting a direct participation of the biological clock in the pathophysiological mechanisms underlying cellular and tissue derangements hallmarking these hereditary diseases. The 24-h periodicity of oscillation of gene transcription and translation could lead in physiological c作者: 輕觸 時(shí)間: 2025-3-26 23:36 作者: exostosis 時(shí)間: 2025-3-27 04:27
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?,e both blood phenylalanine and tyrosine concentrations increased. In the second patient, phenylalanine supplementation (~20?mg/kg/day) was initiated as soon as low phenylalanine concentrations were observed at age 19?days. On this regimen, blood phenylalanine concentrations increased, and hypophenyl作者: 很是迷惑 時(shí)間: 2025-3-27 09:21
Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screeninhich was affected in all four patients reported previously, improved following speech therapy. IQ scores remained generally stable within the normal range. Executive functioning was average to high average in four patients. Behaviour, as assessed through parental questionnaires, was problematic in t作者: Surgeon 時(shí)間: 2025-3-27 13:17
,Mild Lesch–Nyhan Disease in a Boy with a Null Mutation in ,: An Exception to the Known Genotype–Pheh hyperuricaemia, hypotonia, developmental delay and extrapyramidal and pyramidal involvement. He has never shown any signs of self-injurious or maladaptive behaviour. This boy is one of the rare cases with a suspected null mutation in . that associates with a milder than expected phenotype with lac作者: 共同時(shí)代 時(shí)間: 2025-3-27 16:35
Yohta Shimada,Erica Nishimura,Hiroo Hoshina,Hiroshi Kobayashi,Takashi Higuchi,Yoshikatsu Eto,Hiroyukmals. Third, comparative behavioral studies have demonstrated that sophisticated cognition and emotion are not unique to some primates but are also found in many non-primate and even non-mammalian species. This work will appeal to a wide readership in such fields as neuroscience, cognitive science, 作者: chiropractor 時(shí)間: 2025-3-27 21:29 作者: 慎重 時(shí)間: 2025-3-28 01:26
Liam R. Brunham,Martin H. Kang,Clara Van Karnebeek,Singh N. Sadananda,Jennifer A. Collins,Lin-Hua Zh could provide a clue to understand the evolutionary origin of empathy. We first review basic findings concerning emotional contagion and introduce recent studies that examined the importance of social comparison in automatic empathetic responses, which indicate that the nonstandard forms of empathy作者: corporate 時(shí)間: 2025-3-28 04:50 作者: Invertebrate 時(shí)間: 2025-3-28 08:23
,Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome),to construct reference growth curves for MPS VI patients with rapidly and slowly progressive disease...: We pooled cross-sectional and longitudinal height for age data from galsulfase (Naglazyme., BioMarin Pharmaceutical Inc.), treatment na?ve patients (.?=?269) who participated in various MPS VI st作者: 玩忽職守 時(shí)間: 2025-3-28 11:33
Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the ry treatment for HT1 is nitisinone (Orfadin) in conjunction with a low-tyrosine/phenylalanine diet. The appropriate use of nitisinone medication and adhering to specialist diet is thus central to the successful management of HT1...: To date, no published research has examined adherence (to medicatio作者: Absenteeism 時(shí)間: 2025-3-28 17:32 作者: aesthetician 時(shí)間: 2025-3-28 22:05
,Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Gluconction of mutant GAA in fibroblasts derived from Pompe disease patient carrying c.546G>T mutation is improved by treatment with proteasome inhibitor bortezomib as well as pharmacological chaperone (PC). However, bortezomib-responsive GAA mutations are not fully characterized. In this study, we showe作者: hauteur 時(shí)間: 2025-3-29 01:53 作者: Juvenile 時(shí)間: 2025-3-29 03:35
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in , in Families with Tanglipoprotein cholesterol, accumulation of cholesterol in multiple tissues, peripheral neuropathy, and accelerated atherosclerosis. Here we report three new kindreds with Tangier disease harboring both known and novel mutations in .. One patient was identified to be homozygous for a nonsense mutation,作者: SAGE 時(shí)間: 2025-3-29 10:37
Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deteriordegradation of heparan sulfate (HS). No effective disease-modifying therapy is yet available. In contrast to some other neuronopathic LSDs, bone marrow-derived hematopoietic stem cell transplantation (HSCT) fails to prevent neurological deterioration in MPS III patients. We report on the 5-year outc作者: bonnet 時(shí)間: 2025-3-29 14:30
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatabl (GIF) gene..We report three individuals from an Old Order Mennonite community who presented with B. deficiency. Two cases are siblings born to consanguineous parents and the third case is not known to be closely related. The older male sib presented at 4 years with gastrointestinal symptoms, listle作者: Protein 時(shí)間: 2025-3-29 19:37 作者: 不如屎殼郎 時(shí)間: 2025-3-29 22:21
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel , Muta dehydrogenase (GCDH) deficiency. Presentation and progression of disease are variable ranging from asymptomatic carrier state to catastrophic encephalopathy. GA-I usually presents before age 18?months, usually triggered by childhood infection, with mild or severe acute encephalopathy, striatal dege作者: Torrid 時(shí)間: 2025-3-30 00:59 作者: 小平面 時(shí)間: 2025-3-30 07:45 作者: 去掉 時(shí)間: 2025-3-30 10:02
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?,on of toxic metabolites including succinylacetone. Clinically, HT1 is characterized by severe liver, kidney, and neurological problems. Treatment with NTBC and dietary restriction of tyrosine and phenylalanine have strongly improved outcome, but impaired neurocognitive development has been reported.作者: 吊胃口 時(shí)間: 2025-3-30 15:46 作者: 正式通知 時(shí)間: 2025-3-30 20:12 作者: 巨頭 時(shí)間: 2025-3-30 22:41 作者: 逢迎春日 時(shí)間: 2025-3-31 02:09 作者: 壯觀的游行 時(shí)間: 2025-3-31 08:19
