[PDF] Top 20 Eficacia de los autocuidados en la prevención de las infecciones del tracto urinario.
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Inborn errors in the metabolism of glutathione
... glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functions, including free radical scavenging, detoxification of xenobiotics ... See full document
26
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
... Inherited defects of purine metabolism comprise a group of disorders with very variable clinical manifestations. Altered levels of serum and urine UA levels may con- stitute effective markers in screening ... See full document
5
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
... Inborn errors of metabolism (IEM) are a group of rare, heterogeneous genetic conditions typically affecting en- zyme functioning. Clinically, IEM often affect the central nervous system but also ... See full document
5
Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review
... of inborn errors of metabolism (IEMs) that present as CP mimics, many of which are in fact amenable to therapy targeting the underlying cause that can improve neurological ... See full document
26
Metabolic Nutri Expert System: A Comprehensive Tool for Achieving Metabolic Control of Inborn Errors of Amino Acid Metabolism
... are inborn errors of amino acid (blocks of protein) metabolism (IEAAM), which are characterized by high blood concentration of one or more amino acids, and are assumed to result from deficient ... See full document
20
Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)
... different inborn errors of metabolism (IEMs) have been associated with sudden death ...amino-acid metabolism), E71 (Disorders of branched-chain amino-acid metabolism and fatty-acid ... See full document
9
Gene therapy for inborn errors of liver metabolism: progress towards clinical applications
... Significant advances in the diagnosis and treatment of inborn errors of metabolism have occurred in recent years. Expanded newborn screening using tandem mass spectrometry has led to the ability to ... See full document
15
Therapies for Inborn Errors of Metabolism: What Has the Orphan Drug Act Delivered?
... includes inborn errors of intermediate metabolism that lead to progressive accumulation of toxic products proxi- mal to the metabolic ...energy metabolism, which can be subgrouped into ... See full document
9
Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need
... Successful intervention for inborn errors of metabolism (IEMs) is a triumph of modern medicine. For many of these conditions, medical foods are the cornerstone of therapy and the only effective ... See full document
160
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
... The “SIEM-Networks” combined strategy has enabled the diagnosis of thousands of cases of inborn errors if metabolism in Brazil since it was initially set up in 2001. With this strategy, sophisticated ... See full document
6
Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
... Objective: Our study aimed to estimate the frequency of inborn errors of metabolism (IEMs) in patients presenting with acute encephalopathy-like picture at an emergency department (ED). Subjects and ... See full document
10
Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism
... RESULTS. A total of 214 emergency department visits for patients with inborn errors of metabolism were analyzed, 90 before and 124 after initiation of the pathway. All measures of timeliness of care ... See full document
18
Special Diets for Infants With Inborn Errors of Amino Acid Metabolism
... Infants with certain inborn errors of amino acid metabolism can be treated with special diets that restrict one or more amino acids to the minimum essential for normal growth.. The princ[r] ... See full document
7
Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis
... the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disor- ders of amino acid metabolism, present in the young infant with symptoms of an acute or ... See full document
6
Inborn Errors of Metabolism: The Clinical Diagnosis in Early Infancy
... best known inborn errors of metabolism associated with hypoglycemia are the glycogen storage diseases of which types I (von Gierke disease or glucose-6- phosphatase deficiency) and III ([r] ... See full document
101
Failure to Thrive: When to Suspect Inborn Errors of Metabolism
... reducing substance, and ketonuria could be caused by IEM, and the patient should be referred to a metabolic spe- cialist for further metabolic investiga- tions. When there is a metabolic acido- sis, it is very important ... See full document
25
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
... molecule IEMs have an acute intoxication presentation with a remitting-relapsing clinical course. These include organic acidemias, vitamin responsive disorders, urea cycle disorders, inborn errors of ... See full document
7
New Developments in Screening for Inborn Errors of Metabolism
... Experience with the prototype, the phenylketonuria (PKU) program, dictates that mass screening for in- born errors of metabolism is here to stay and will most cer[r] ... See full document
8
Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism
... WHAT THIS STUDY ADDS: Using Northern California Kaiser Permanente’s integrated medical record, we found that children with IEMs received vaccines on similar schedules as healthy infants [r] ... See full document
11
A proteomic approach to the study of inborn errors of metabolism
... The use of fucose as a co-matrix with a-cyano-4-hydroxycinnamic acid had been shown to be beneficial in the analysis of peptide mixtures in terms of sensitivity and th[r] ... See full document
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