metabolism, inborn errors
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 ...
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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 ...
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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 ...
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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 ...
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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 ...
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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 ...
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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 ...
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Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism
... with inborn errors of metabolism in our urban, academic, pediatric emergency department, we compared measures of timeliness and effectiveness for patients treated before the pathway with the same ...
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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 ...
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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 ...
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Metabolic Nutri Expert System: A Comprehensive Tool for Achieving Metabolic Control of Inborn Errors of Amino Acid Metabolism
... The main aim of this study was to develop a comprehensive nutritional planning expert system for inborn errors of amino acid metabolism (IEAAM). Metabolic Nutri-Expert System, integrated in the ...
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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 ...
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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 ...
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Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996
... Any attempt at generating accurate prevalence or incidence figures based on years of birth will always be subject to problems of underdiagnosis because there will always be some patients who present with signs or ...
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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 ...
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GENES, MEDICINE AND SOCIETY: FROM PAEDIATRICS TO GENETIC COUNSELLING AND BEYOND
... One major area of interest in medical genetics is the study of inborn errors of metabolism (IEM). Issues pertaining to the diagnosis and management of IEM in Malaysia include low awareness of ...
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Detection of some metabolic disorders in suspected neonates admitted at Assiut University Children Hospital
... confirmed inborn errors of metabolism, and another 8 cases (4%) suspected to have inborn errors of metabolism; 15/200 ...
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Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders
... In other heterogeneous or rare diseases in children such as epilepsy or neuromuscular disorders, a beneficial effect of a multidisciplinary approach has been reported. [16–20] We hypothesized that such an approach might ...
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“Pattern of Prevalence of Congenital Anomalies and Its Association with Risk Factors- A Retrospective Study” by Aruna M, Saravana Kumar J, Dhanush P, Dr.Hephzibah Kirubamani N, India.
... ongenital anomalies are defined as structural defects, chromosomal abnormalities, inborn errors of metabolism and hereditary disease, diagnosed before, at, or after birth. 1 It is defined as ...
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The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome
... with inborn errors of metabolism include [1,83]: UCDs (they generally present along with elevation in plasma ammonia concen- tration, hyperglutaminemia and metabolic alkalosis); or- ganic acidemias ...
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