[PDF] Top 20 Inborn errors of metabolism: a clinical overview
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Inborn errors of metabolism: a clinical overview
... SELECTION OF STUDIES: A selectio n o f 1 0 8 references abo ut IEM by experts in the subject was ...made. Clinical cases are presented with the peculiar sympto ms o f vario us ...and clinical and ... See full document
15
Human and Medical Genetics in Brazil
... end of the Second World War, in 1945, the revelation by the press and cinema of part of the hor- rors which were committed in the Nazi concentration and extermination camps served to silence the ... See full document
6
An overview on adynamic bone disease clinical and therapeutical approaches
... concentration of phosphorus and calcium as well as changes in circulating levels of ...course of CKD there is a reduction in the ability of the kidney to excrete an adequate load of ... See full document
46
Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause
... up of 101 newborns selected from among the births occurring at the Neonatal Unit during a 14 month period, representing ...6.8% of the total number of births during the period (n = ...because ... See full document
5
Screening for Inborn Errors of Metabolism
... analysis of body luids in clinically selected patients, referred to as metabolic screening ...results of these tests can help to suggest known groups of metabolic disorders so that speciic ... See full document
4
Aminoacidopatias de interesse neurológico.
... — Abnormalities of branched chain amino acid metabolism: hypervalinemia, branched-chain ketonuria (maple syrup urine di- sease), isovaleric acidemia... — Inborn Errors of Metabolism.[r] ... See full document
11
Overview of international teledermatology
... one of many communication technologies to expand the reach of a dermatologist to those in need of their specialized ...one of two main ...aspects of videoconferencing with ... See full document
14
Determination Of Longevity Of Teeth In Buckets Of Loading Equipment In Coal Mines - A Case Study
... life of teeth of dragline and shovel were obtained and different type of rock samples were collected for the purpose of laboratory ...description of area Northern Coalfields Limited ... See full document
11
J. Bras. Patol. Med. Lab. vol.50 número2
... cause of errors, resulting in 25.45% of pre-analytical errors in this ...lack of a speciic division for receiving and distributing samples, the low automation of the ... See full document
5
SOCIAL ECONOMY – A FORM OF INCLUSION AND OF ''REACTIVATING'' OF LABOR IN THE CONTEXT OF THE CURRENT CRISIS
... context of the cohesion policy, solidarity must represent a support for development ...training of the people to whom the support of making maximum profit out of these addresses ...but, ... See full document
13
A systematic review of mapping strategies for the sonification of physical quantities.
... one of the most well-known devices to integrate an auditory display system — popular among the public and emblematic for sonification researchers — is the Geiger counter, which translates ionizing radiation into ... See full document
28
The Influence Of CSR Awareness On Consumer Purchase Decision Of A Telecommunication Network In Ghana A Case Of La Nkwantanag Madina Municipality
... premise of the corporate social responsibility movement is that ‗corporations, because they are the dominant institution of the planet, must squarely face and address the social and environmental problems ... See full document
9
Expression of cell surface receptors and oxidative metabolism modulation in the clinical continuum of sepsis
... independent of cell receptor interaction, fMLP and LPS (bacterial agents from Gram-positive bacteria and Gram-negative bacteria, which have distinct receptor populations), and ... See full document
10
Non-clinical studies required for new drug development – Part I: early in silico and in vitro studies, new target discovery and validation, proof of principles and robustness of animal studies
... steps of therapeutic tar- get validation are obtained using in vivo or in vitro assays and involve protein or messenger RNA expression in human samples by using immunohistochemistry and in situ hybridization ... See full document
9
Rev. bras. ter. intensiva vol.23 número4
... for Clinical Nutrition and Metabolism; European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN); European Society of Paediatric Research ...Nutrition of the ... See full document
3
STATISTICAL CHARACTERISTICS INVESTIGATION OF PREDICTION ERRORS FOR INTERFEROMETRIC SIGNAL IN THE ALGORITHM OF NONLINEAR KALMAN FILTERING
... peculiarities of nonlinear Kalman filtering algorithm applied to processing of interferometric signals are ...characteristics of signal values prediction errors were obtained and analysis ... See full document
7
Overview of genotypic and clinical profiles of human immunodeficiency virus type 1-infected children in Rio de Janeiro, Brazil
... increase of non-B subtype strains as the epidemic progressed, in particular after ...introduction of non-B subtypes and their expansion have also been suggested in the adult population in Brazil (Soares et ... See full document
15
Arq. Bras. Cardiol. vol.72 número4
... estimates of treatment; 3) to allow adequa- te analyses of subgroups of interest; 4) to verify information about drug efficacy for regulatory purposes; 5) to provide information that will initiate ... See full document
4
Sleep disorders in Parkinson's disease: clinical features, iron metabolism and related mechanism.
... part of thalamocortical arousal system, which is originated from ventral tegmental area and innervates to thalamus and hippocampus ...tion of mesocorticolimbic dopamine system is featured by a lack ... See full document
7
An Overview of Family Hernandiaceae
... genus of trees distributed mainly in the tropical and sub tropical regions of the ...species of the genera belonging to this family are also found in equatorial regions and few oceanic islands such ... See full document
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