نتایج جستجو برای: biotinidase deficiency

تعداد نتایج: 137210  

Journal: :Seizure 2014
Miho Fukui Shuichi Shimakawa Ichiro Kuki Hisashi Kawawaki Yukiko Mogami Yasuhiro Suzuki Sayaka Nakano Takeshi Okinaga

PURPOSE Epileptic spasms sometimes begin after the first year of life, and such seizures are recognized as late-onset spasms (LOS). The prognosis of LOS is poor, and a treatment strategy has not been established. This study aimed to assess the short- and long-term effects of adrenocorticotropic hormone (ACTH) therapy for LOS. METHODS We investigated the rate of LOS in 22 patients (14 boys and...

Journal: :Science 2013
Logan Mitchell Ed Brook James E Lee Christo Buizert Todd Sowers

The origin of the late preindustrial Holocene (LPIH) increase in atmospheric methane concentrations has been much debated. Hypotheses invoking changes in solely anthropogenic sources or solely natural sources have been proposed to explain the increase in concentrations. Here two high-resolution, high-precision ice core methane concentration records from Greenland and Antarctica are presented an...

2012
Yanxi Song C. S. Chidan Kumar G. B. Nethravathi S. Naveen Hongqi Li

In the title salt {systematic name: 4-diphenyl-methyl-1-[(E)-3-phenyl-prop-2-en-1-yl]piperazin-1-ium 2,4,6-trinitro-pheno-late), C(26)H(29)N(2) (+)·C(6)H(2)N(3)O(7) (-), the cinnarizinium cation is protonated at the piperazine N atom connected to the styrenylmethyl group; the piperazine ring adopts a distorted chair conformaiton. In the crystal, bifurcated N-H⋯(O,O) hydrogen bonds link the comp...

Journal: :American journal of physical anthropology 2008
Mario Slaus

The purpose of this study is to analyze health at the transition from the Late Antique (LA) to the Early Medieval (EM) period in Croatia. Results of the analyses of skeletal remains are compared with historical and archaeological data to test the hypothesis that the transition was catastrophic. An additional objective is to determine whether the transition was a uniform process, or differential...

2012
Juan F. Abenza Antonio Galindo Mario Pinar Areti Pantazopoulou Vivian de los Ríos Miguel A. Peñalva

We exploit the ease with which highly motile early endosomes are distinguished from static late endosomes in order to study Aspergillus nidulans endosomal traffic. RabS(Rab7) mediates homotypic fusion of late endosomes/vacuoles in a homotypic fusion- and vacuole protein sorting/Vps41-dependent manner. Progression across the endocytic pathway involves endosomal maturation because the end product...

2010
J Brännström V Svedhem A Yilmaz A Blaxhult S Wendahl A Sönnerborg

Methods In a prospective study involving 12 Swedish HIV clinics, all newly diagnosed patients, >18 years, are invited to participate to explore what characterize a late presenters (LP), defined by CD4 <350 and/or AIDS diagnosis, from those diagnosed earlier. Demographic and biomedical data are collected as well as HIV-related symptoms and AIDS diagnosis. Four questionnaires are completed; medic...

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