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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

Mol Genet Genomic Med. 2024 Apr;12(4):e2443. doi: 10.1002/mgg3.2443. ABSTRACT BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) due to an X-linked OTC mutation, is responsible for moderate to …

Hypomethylating agents are associated with high rates of hematologic toxicity in patients with secondary myeloid neoplasms developing after acquired aplastic anemia

Haematologica. 2024 Apr 18. doi: 10.3324/haematol.2024.285275. Online ahead of print. ABSTRACT Not available. PMID:38634143 | DOI:10.3324/haematol.2024.285275

Heparin-induced DRESS syndrome in a paediatric patient and successful anaesthetic management in cardiovascular bypass surgery: case report

J Cardiothorac Surg. 2024 Apr 17;19(1):242. doi: 10.1186/s13019-024-02722-x. ABSTRACT BACKGROUND: Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome is a severe adverse drug reaction …

Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023

Orphanet J Rare Dis. 2024 Apr 17;19(1):162. doi: 10.1186/s13023-024-03123-y. ABSTRACT Recently, Ombashi et al. published a systematic review aiming to identify the pitfalls in the …

The relationship between childhood maltreatment subtypes and adolescent internalizing problems: The mediating role of maladaptive cognitive emotion regulation strategies

Child Abuse Negl. 2024 Apr 16;152:106796. doi: 10.1016/j.chiabu.2024.106796. Online ahead of print. ABSTRACT BACKGROUND: While childhood maltreatment is understood to be a significant risk factor …