Results 21 to 30 of about 2,017,541 (209)

Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry [PDF]

Scientific Reports
Inherited metabolic disorders (IMDs) are genetic conditions characterized by toxic metabolite accumulation or deficiencies in essential products, often leading to severe clinical symptoms.
Dong Han, Yilun Tao, Jianfang Li, Lihong Wang, Wenxia Song, Xiaoze Li   +5 more
doaj   +2 more sources

Low bone mineral density in rare metabolic disorders: data from a Turkish cohort of patients with glycogen storage disorders and organic acidemias

Trends in Pediatrics
Objective: To evaluate bone mineral density (BMD) and the nutritional and biochemical factors affecting it in children with glycogen storage diseases (GSD) and organic acidemias (OA), which are rare metabolic disorders.
Burcu Kumru Akin, Emine Goksoy
doaj   +2 more sources

Practical management of organic acidemias

Translational Science of Rare Diseases, 2019
Organic acidemias or acidurias (OAs) are a group of metabolic disorders which result in organic acids detected in the urine (or plasma). They include the systemic OAs, the cerebral OAs, and the ketogenic/ketolytic OAs. In general, all types of OA can be treated using a similar conceptual organization.
K. Chapman
openaire   +3 more sources

Potential Therapeutic Targets of the Endocannabinoid System in Common Neurodegenerative Disorders and Organic Acidemias

Journal of Inborn Errors of Metabolism and Screening, 2017
The cannabinoid chemistry is currently being addressed in preclinical approaches as a viable therapeutic alternative for the management of a wide range of signs, symptoms, and some biochemical hallmarks of many neurological pathologies (such as ...
Gabriela Aguilera MSc, Abel Santamaria PhD   +1 more
doaj   +2 more sources

Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México [PDF]

Global Pediatric Health
Objectives . To describe the results of a 16-year experience of a state-coverage expanded newborn screening program (NBSP) in Northeast México. Methods . Between 2002 and 2017, dried blood spots of newborns were screened for congenital hypothyroidism (CH)
María del Rosario Torres-Sepúlveda QCB, Laura E. Martínez de Villarreal MD, Jesús Zacarías Villarreal-Pérez MD, María del Consuelo Ruiz Herrera QCB, Patricia del Carmen Arredondo Vázquez MD, Ana Karen Treviño-Morales MD   +5 more
doaj   +2 more sources

Expanded Newborn Screening in Italy: The First Report of Lombardy Region [PDF]

International Journal of Neonatal Screening
Background: Newborn screening (NBS) is a preventive healthcare program aiming at identifying the inborn errors of metabolism (IEMs) in asymptomatic infants to reduce the risk of severe complications.
Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Laura Saielli, Manuela Rizzetto, Davide Biganzoli, Cristina Montrasio, Diana Postorivo, Elisa Pratiffi, Andrea Meta, Stephana Carelli, Alessandro Amorosi, Sabrina Paci, Graziella Cefalo, Francesca Furlan, Francesca Menni, Serena Gasperini, Viola Crescitelli, Giuseppe Banderali, Gianvincenzo Zuccotti, Luisella Alberti, Cristina Cereda   +23 more
doaj   +2 more sources

Nutrient Intake and Nutritional Status in Adult Patients with Inherited Metabolic Diseases Treated with Low-Protein Diets: A Review on Urea Cycle Disorders and Branched Chain Organic Acidemias. [PDF]

Nutrients, 2020
Low-protein diets (LPDs) are the main treatment for urea cycle disorders (UCDs) and organic acidemias (OAs). In most cases, LPDs start in childhood and must be continued into adulthood.
Francini-Pesenti F, Gugelmo G, Lenzini L, Vitturi N.   +3 more
europepmc   +2 more sources

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. [PDF]

J Inherit Metab Dis, 2018
BackgroundThere is increasing evidence that long-term complications in organic acidemias are caused by impaired mitochondrial metabolism. Currently, there is no specific biomarker to monitor mitochondrial dysfunction in organic acidemias.
Molema F, Jacobs EH, Onkenhout W, Schoonderwoerd GC, Langendonk JG, Williams M.   +5 more
europepmc   +2 more sources

Cardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort

Diagnostics, 2023
Background: Cardiac involvement is reported in a significant proportion of patients with classical organic acidurias (OAs), contributing to disability and premature death.
Silvia Passantino, Serena Chiellino, Francesca Girolami, Mattia Zampieri, Giovanni Battista Calabri, Gaia Spaziani, Elena Bennati, Giulio Porcedda, Elena Procopio, Iacopo Olivotto, Silvia Favilli   +10 more
doaj   +1 more source

Vitamin B2 enables regulation of fasting glucose availability

eLife, 2023
Flavin adenine dinucleotide (FAD) interacts with flavoproteins to mediate oxidation-reduction reactions required for cellular energy demands. Not surprisingly, mutations that alter FAD binding to flavoproteins cause rare inborn errors of metabolism (IEMs)
Peter M Masschelin, Pradip Saha, Scott A Ochsner, Aaron R Cox, Kang Ho Kim, Jessica B Felix, Robert Sharp, Xin Li, Lin Tan, Jun Hyoung Park, Liping Wang, Vasanta Putluri, Philip L Lorenzi, Alli M Nuotio-Antar, Zheng Sun, Benny Abraham Kaipparettu, Nagireddy Putluri, David D Moore, Scott A Summers, Neil J McKenna, Sean M Hartig   +20 more
doaj   +1 more source