Results 51 to 60 of about 166,560 (232)
Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework [PDF]
, 2019 This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM).The i-PARIHS framework was ...
Mcgill, Jim +4 more
core +1 more source
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, 2022 We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín-Rivada +19 more
semanticscholar +1 more source
Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]
, 2006 Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth +2 more
core +1 more source
Journal of Mass Spectrometry and Advances in the Clinical Lab, 2022 Introduction: Amino acids are critical biomarkers for many inborn errors of metabolism, but amino acid analysis is challenging due to the range of chemical properties inherent in these small molecules.
Patrick D. DeArmond, Dustin R. Bunch
doaj
BMC Pediatrics, 2019 Background The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI).
F. H. de Bitencourt +2 more
doaj +1 more source
BMC Pediatrics, 2018 Background Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM).
Chi-Ju Yang +8 more
doaj +1 more source
, 2018 Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core +1 more source
EPIDEMIOLOGY, PATHOPHYSIOLOGY, AND HINDRANCE OF UREA CYCLE ERROR OF METABOLISM [PDF]
, 2021 Inborn errors of metabolism (IEMs) are a class of genetic disorders that are rare individually, but collectively they occur in common terms exhibiting an average prevalence of 1 in 1000 individuals.
KAVITAPU, VENKATA VASAVI +2 more
core +1 more source
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
Molecular Genetics and Metabolism Reports, 2023 The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a
Eri Ogawa +6 more
doaj
International Journal of Neonatal Screening, 2021 The Quebec Neonatal Urine Screening Program was initiated in 1971 with overall screening inception of newborns in 1973. Forty-seven years later, over 3.5 million babies have been screened for up to 25 inborn errors of metabolism divided into two groups: (
Christiane Auray-Blais +3 more
doaj +1 more source