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Showing results for Irina V. delay
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Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison study.
Jain-Ghai S, Joffe AR, Bond GY, Siriwardena K, Chan A, Yap JYK, Hajihosseini M, Dinu IA, Acton BV, Robertson CMT; Western Canadian Complex Pediatric Therapies Follow‐up Group. Jain-Ghai S, et al. JIMD Rep. 2020 Jan 27;52(1):43-54. doi: 10.1002/jmd2.12095. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154059 Free PMC article.
BACKGROUND: Urea cycle disorders (UCD) and organic acid disorders classically present in the neonatal period. In those who survive, developmental delay is common with continued risk of regression. Liver transplantation improves the biochemical abnormality and patient survi …
BACKGROUND: Urea cycle disorders (UCD) and organic acid disorders classically present in the neonatal period. In those who survive, developm …
The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data.
Odnoletkova I, Kindle G, Quinti I, Grimbacher B, Knerr V, Gathmann B, Ehl S, Mahlaoui N, Van Wilder P, Bogaerts K, de Vries E; Plasma Protein Therapeutics Association (PPTA) Taskforce. Odnoletkova I, et al. Orphanet J Rare Dis. 2018 Nov 12;13(1):201. doi: 10.1186/s13023-018-0941-0. Orphanet J Rare Dis. 2018. PMID: 30419968 Free PMC article.

In exploratory analysis, increased mortality was associated with solid tumor, HR (95% CI): 2.69 (1.10; 6.57) p = 0.030, lymphoma: 5.48 (2.36; 12.71) p < .0001 and granulomatous-lymphocytic interstitial lung disease: 4.85 (1.63; 14.39) p = 0.005. Diagnostic delay (median

In exploratory analysis, increased mortality was associated with solid tumor, HR (95% CI): 2.69 (1.10; 6.57) p = 0.030, lymphoma: 5.48 (2.36 …