Results 161 to 170 of about 2,017,541 (209)

Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia

Journal of Inherited Metabolic Disease, 2023
AbstractOrganic acidemias (OA) are a group of rare autosomal recessive disorders of intermediary metabolism that result in a systemic elevation of organic acid. Despite optimal dietary and cofactor therapy, OA patients still suffer from potentially lethal metabolic instability and experience long‐term multisystemic complications.
Randy J. Chandler, Charles P. Venditti
openaire   +3 more sources

Acute Illness Protocol for Organic Acidemias

Pediatric Emergency Care, 2017
AbstractInborn errors of metabolism (IEM) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare, but collectively have an incidence of 1:1000. Most patients with IEMs are followed by a physician with expertise in Biochemical Genetics (Metabolism), but may present outside of this setting.
Saud H, Aldubayan, Lance H, Rodan, Gerard T, Berry, Harvey L, Levy   +3 more
openaire   +3 more sources

Organic Acidemias

Pediatrics In Review, 2022
Laura L, Guilder, Jonathan B, Kronick
openaire   +3 more sources

Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2022
Objectives Neonatal-onset organic acidemias (OAs) account for 80% of neonatal intensive care unit (NICU) admissions due to inborn errors of metabolism. The aim of this study is to analyze clinical features and follow-up of neonates diagnosed with OAs in ...
Yagmur Unsal, M. Yurdakok, Ş. Yiğit, H. Çelik, A. Dursun, H. Sivri, A. Tokatlı, T. Coşkun   +7 more
semanticscholar   +1 more source

The markers of the organic acidemias and their ratios in healthy neonates in Serbian population

Drug Metabolism and Personalized Therapy, 2022
Objectives The newborn screening (NBS) program in the Republic of Serbia has several decades of tradition, but it has not included any organic acidemias (OA).
A. Beletić, Aleksandra Tijanić, P. Chrastina, T. Nikolić, A. Stefanović, S. Stanković   +5 more
semanticscholar   +1 more source

Organic Acidemias: Clinical Presentation in Neonates

Newborn
Mario Motta, Mohammad Mozibur Rahman, Gayatri Athalye-Jape, Monika Kaushal   +3 more
openaire   +2 more sources

Introduction to the organic acidemias

2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop   +3 more
openaire   +2 more sources

Pancreatitis in patients with organic acidemias

The Journal of Pediatrics, 1994
The discovery of pancreatitis in two children with methylmalonic acidemia led us to review the experience with pancreatitis in a large number of patients with organic acidemias to determine whether pancreatitis is an important complication of these disorders.Case series.Pediatric metabolism services at five tertiary care centers.Records of all patients
S G, Kahler, W G, Sherwood, D, Woolf, S T, Lawless, A, Zaritsky, J, Bonham, C J, Taylor, J T, Clarke, P, Durie, J V, Leonard   +9 more
openaire   +3 more sources

Aminoacidemias and Organic Acidemias

2017
Renata C. Gallagher, Gregory M. Enns, Tina M. Cowan, Bryce Mendelsohn, Seymour Packman   +4 more
openaire   +2 more sources

Organic Acidemias

Clinics in Perinatology, 1976
Inherited organic acidemias are a group of metabolic disorders currently being described and investigated as gas-liquid chromatography is applied to unexplained diseases of infancy and childhood. Common clinical presentations include attacks of ketoacidosis, unexplained metabolic acidosis, failure of normal development, seizures, and other neurologic ...
openaire   +2 more sources