Results 51 to 60 of about 3,324 (167)
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss +10 more
wiley +1 more source
Dystonia Scales for Children: Challenges and Obstacles in DBS Practice
Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 795-799, March 2026.Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Marcela Montiel +4 more
wiley +1 more source
CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 2, February 2026.ABSTRACT Bilirubin is a breakdown product of erythrocytes and plays a crucial role in elimination of heme‐containing proteins. After its synthesis in the reticuloendothelial system, unconjugated bilirubin is released into plasma and taken up into the liver.
Ahenk Zeynep Sayin, Lars Kuepfer
wiley +1 more source
The jaundiced newborn: which early monitoring for a safe discharge?
La Pediatria Medica e Chirurgica, 2013 Neonatal jaundice is one of the most common causes of prolonged hospital stay or readmission of a near-term or term baby. Reason of concern at early discharge of a jaundiced newborn is that of bilirubin neurotoxicity, even if a serum bilirubin ...
S. Pratesi, C. Dani
doaj +1 more source
PLoS ONE, 2014 BackgroundKernicterus still occurs around the world; however, the mechanism of bilirubin neurotoxicity remains unclear, and effective treatment strategies are lacking.
Sijie Song +4 more
doaj +1 more source
Neurological complications of neonatal hyperbilirubinemia in Eastern India
Annals of Medical Science and ResearchBackground: Neonatal hyperbilirubinemia (NH) affects up to 60%–80% of term and near-term infants and, when severe or delayed in treatment, can progress to acute bilirubin encephalopathy or permanent kernicterus.
Shatadip Chakraborty +2 more
doaj +1 more source
EMBO Molecular Medicine, 2017 Crigler‐Najjar syndrome type I (CNSI) is a rare monogenic disease characterized by severe neonatal unconjugated hyperbilirubinemia with a lifelong risk of neurological damage and death. Liver transplantation is the only curative option, which has several
Fabiola Porro +8 more
doaj +1 more source
Cerebellar Symptoms in Crigler-Najjar Type I Disease
Pediatric Neurology Briefs, 1992 Three children with Crigler-Najjar (CN) type I disease who had cerebellar symptoms as the initial manifestation of kernicterus are reported from the Hopital Antoine Beclere, Clamart Cedex, France.
J Gordon Millichap
doaj +1 more source
Cell Transplantation, 2018 Neonatal hyperbilirubinemia targets specific brain regions and can lead to kernicterus. One of the most debilitating symptoms of kernicterus is dystonia, which results from bilirubin toxicity to the globus pallidus (GP).
Fu-Chen Yang +5 more
doaj +1 more source
Kernicterus and Prematurity [PDF]
Archives of Disease in Childhood, 1955 V M, CROSSE, T C, MEYER, J W, GERRARD
openaire +2 more sources