نتایج جستجو برای: biotinidase deficiency

تعداد نتایج: 137210  

Journal: :Journal of international health sciences and management 2021

Compared with other common diseases in the general population, a rare disease is health condition that affects small number of people. The progressive, life-threatening and multi-dimensional nature these requires development an effective policy. aim this study to examine policy for from historical point view Turkey. Public Health Law No. 1593 provides basis policies developed field diseases. In...

Journal: :iranian journal of child neurology 0
mahmoud reza ashrafi professor of pediatric neurology- children’s medical center, tehran university of medical sciences,tehran,iran alireza tavasoli fellow of pediatric neurology- children’s medical center tehran university of medical sciences,tehran, iran

clinical differential diagnosisthe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child. a-organic aciduriaseveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis...

2011
Brenda Crabtree-Ramírez Yanink Caro-Vega Bryan E. Shepherd Firas Wehbe Carina Cesar Claudia Cortés Denis Padgett Serena Koenig Eduardo Gotuzzo Pedro Cahn Catherine McGowan Daniel Masys Juan Sierra-Madero

BACKGROUND Starting HAART in a very advanced stage of disease is assumed to be the most prevalent form of initiation in HIV-infected subjects in developing countries. Data from Latin America and the Caribbean is still lacking. Our main objective was to determine the frequency, risk factors and trends in time for being late HAART initiator (LHI) in this region. METHODOLOGY Cross-sectional anal...

2017
Qiying Sun Nina Xie Beisha Tang Rena Li Yong Shen

Being the most common cause of dementia, AD is a polygenic and neurodegenerative disease. Complex and multiple factors have been shown to be involved in its pathogenesis, of which the genetics play an indispensable role. It is widely accepted that discovery of potential genes related to the pathogenesis of AD would be of great help for the understanding of neurodegeneration and thus further pro...

2016
Jie Gao Ting Lan

Late embryogenesis abundant (LEA) proteins are a large and highly diverse gene family present in a wide range of plant species. LEAs are proposed to play a role in various stress tolerance responses. Our study represents the first-ever survey of LEA proteins and their encoding genes in a widely distributed pine (Pinus tabuliformis) in China. Twenty-three LEA genes were identified from the P. ta...

2016
Timothy L. Mullett Neil Stewart

We use computational modeling to examine the ability of evidence accumulation models to produce the reaction time (RT) distributions and attentional biases found in behavioral and eye-tracking research. We focus on simulating RTs and attention in binary choice with particular emphasis on whether different models can predict the late onset bias (LOB), commonly found in eye movements during choic...

Journal: :Hormones 2008
Ilpo Huhtaniemi Juuso I Mäkinen Antti Perheentupa Olli T Raitakari

Interest has arisen during the last 10 years as to the possible connection between the age-related decline in androgen production and symptoms of ageing in men. A new ageing-related syndrome with several descriptive names, such as andropause, male menopause, Partial Androgen Deficiency of the Ageing Male (PADAM) and Late-Onset Hypogonadism (LOH), has been identified. Intensive research into the...

2008
M. M. Miller L. G. Althaus

We present 1-D numerical simulations of the very late thermal pulse (VLTP) scenario for a wide range of remnant masses. We show that by taking into account the different possible remnant masses, the observed evolution of V4334 Sgr (a.k.a. Sakurai’s Object) can be reproduced within the standard 1D-MLT stellar evolutionary models without the inclusion of any ad− hoc reduced mixing efficiency. Our...

2008
J. W. Kruk

Spectral analyses of H-deficient post-AGB stars have shown that a small group of four extremely hot objects exists which have almost pure He absorption-line spectra in the optical. These are classified as O(He) stars. For their evolution there are two scenarios: They could be the long-sought hot successors of RCrB stars, which have not been identified up to now. If this turns out to be true, th...

2017
Orla Purcell Aoife Coughlan Tim Grant Jenny McNulty Anne Clark Deirdre Deverell Philip Mayne Joanne Hughes Ahmad Monavari Ina Knerr Ellen Crushell

A low methionine diet is the mainstay of treatment for pyridoxine nonresponsive homocystinuria (HCU). There are various guidelines for recommended protein intakes for HCU and clinical practice varies. Poor growth has been associated with low cystine levels. This retrospective review of 48 Irish pyridoxine nonresponsive HCU patients assessed weight, height, body mass index (BMI), protein intake,...

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