Results 31 to 40 of about 3,985 (198)
International Journal of Neonatal Screening, 2022 Most state newborn screening programs in the U.S. currently contribute case data to the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs).
Amel Omari +5 more
doaj +1 more source
Maple Syrup Urine Disease and Cerebral Edema
Pediatric Neurology Briefs, 1991 Cerebral edema causing death in four children with maple syrup urine disease (MSUD) is reported from St.
J Gordon Millichap
doaj +1 more source
Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
Clinical Case Reports, 2018 Key Clinical Message Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required.
Wenjie Li +9 more
doaj +1 more source
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Molecular Genetics and Metabolism Reports, 2021 Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids ...
Laura Guilder +8 more
doaj +1 more source
Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy
Pediatrics and Neonatology, 2016 Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine).
Jia-Woei Hou
doaj +1 more source
Nutrient management in the intrapartum period in maternal maple syrup urine disease
Molecular Genetics and Metabolism Reports, 2021 Women with congenital amino acid disorders, including maple syrup urine disease (MSUD), are at risk of metabolic crisis at delivery. There are still only a few case reports of maternal MSUD globally, and we are the first to report the successful ...
Chika Takano +10 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2018 Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid ...
Ernie Zuraida Ali, Lock-Hock Ngu
doaj +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Maple Syrup Urine Disease in a Central Indiana Hereford Herd
Case Reports in Veterinary Medicine, 2015 Maple syrup urine disease (MSUD) and further cases were identified in herd mates of a small Hereford herd in Indiana based on history, clinical signs, microscopic lesions, and biochemical and genetic testing.
Mark E. Robarge +4 more
doaj +1 more source