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Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program

Mol Genet Metab Rep. 2024 Oct 13;41:101153. doi: 10.1016/j.ymgmr.2024.101153. eCollection 2024 Dec. ABSTRACT BACKGROUND: Elevated plasma levels of 3-hydroxyisovaleryl-carnitine (C5OH) and impaired leucine catabolism are …

Clinical parameters and postoperative outcomes of pituitary adenomas in children: Analysis according to size of adenomas and adopted surgical procedures

Mol Clin Oncol. 2024 Oct 18;21(6):94. doi: 10.3892/mco.2024.2792. eCollection 2024 Dec. ABSTRACT Pathologies of pediatric pituitary adenomas are uncommon and challenging to diagnose. Pituitary adenomas …

The relationship between menstrual cycle characteristics, premenstrual syndrome prevalence and blood phenylalanine level in women with PKU

Mol Genet Metab Rep. 2024 Oct 15;41:101154. doi: 10.1016/j.ymgmr.2024.101154. eCollection 2024 Dec. ABSTRACT Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, catalyzing the conversion …

Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease

Mol Genet Metab Rep. 2024 Oct 13;41:101152. doi: 10.1016/j.ymgmr.2024.101152. eCollection 2024 Dec. ABSTRACT Fabry disease is the most frequently occurring form of lysosomal disease in …

Assessment of parental self-efficacy in managing child food-induced anaphylaxis and using adrenaline autoinjectors

Pediatr Allergy Immunol. 2024 Nov;35(11):e14265. doi: 10.1111/pai.14265. ABSTRACT BACKGROUND: Anaphylaxis is a life-threatening allergic reaction, associated with mental health burden in patients and caregivers. Intramuscular …

Characteristics of Fatalities Among Sexual- and Gender-Diverse Youth in the United States: 2015-2020

Pediatrics. 2024 Nov 1;154(Suppl 3):e2024067043P. doi: 10.1542/peds.2024-067043P. ABSTRACT OBJECTIVES: Sexual- and gender-diverse youth face unique stressors that negatively impact their health. The objective of this …