Results 91 to 100 of about 19,497 (183)

Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]

, 2018
Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
core  

Initial Metabolic Profiles Are Associated with 7-Day Survival among Infants Born at 22-25 Weeks of Gestation. [PDF]

, 2018
OBJECTIVE:To evaluate the association between early metabolic profiles combined with infant characteristics and survival past 7 days of age in infants born at 22-25 weeks of gestation. STUDY DESIGN:This nested case-control consisted of 465 singleton live
Anderson, James G, Baer, Rebecca J, Jelliffe-Pawlowski, Laura L, Oltman, Scott P, Pantell, Matthew S, Partridge, J Colin, Rand, Larry, Rogers, Elizabeth E, Ryckman, Kelli K, Steurer, Martina A   +9 more
core   +1 more source

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. [PDF]

, 2008
Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
core   +1 more source

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

JIMD Reports
Background Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism.
Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed   +5 more
doaj   +1 more source

Correction: Mothers’ lived experience of caring for children with inborn errors of amino acid metabolism

BMC Pediatrics, 2023
Sara Shirdelzade, Monir Ramezani, Peyman Eshraghi, Abbas Heydari   +3 more
doaj   +1 more source

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Frontiers in Genetics
Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He   +10 more
doaj   +1 more source

3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

Journal of Lipid Research, 1999
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL, E.C. 4.1.3.4) has a unique dual localization in both mitochondria and peroxisomes. Mitochondrial HL (~31.0 kDa) catalyzes the last step of ketogenesis; the function of peroxisomal HL (~33.5 kDa) is unknown.
Lyudmila I. Ashmarina, Alexey V. Pshezhetsky, Steven S. Branda, Grazia Isaya, Grant A. Mitchell   +4 more
doaj  

Technological Journey From Colorimetric to Tandem Mass Spectrometric Measurements in the Diagnostic Investigation for Phenylketonuria

Journal of Inborn Errors of Metabolism and Screening, 2016
Phenylalanine analysis for phenylketonuria (PKU) detection in newborn screening (NBS) was chosen as the model system to describe how advancements in laboratory technology improved laboratory performance.
Donald H. Chace PhD, William H. Hannon PhD   +1 more
doaj   +1 more source

Interpretation of plasma amino acids in the follow-up of patients: The impact of compartmentation [PDF]

, 2018
Summary: Results of plasma or urinary amino acids are used for suspicion, confirmation or exclusion of diagnosis, monitoring of treatment, prevention and prognosis in inborn errors of amino acid metabolism.
Bachmann, Claude
core  

Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

Cell Journal, 2016
Objective: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its ...
Somayeh Ahmadloo, Saeed Talebi, Mohammad Miryounesi, Parvin Pasalar, Mohammad Keramatipour   +4 more
doaj