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Anaesthesia and Intensive Care|September 11, 2024
Urinary chloride excretion in critical illness and acute kidney injury: a paediatric hypothesis-generating cohort study post cardiopulmonary bypass surgeryAdrian C Mattke, Kerry E Johnson, Krishanti Ariyawansa, et al.
Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)|April 8, 2026
Ophthalmic and Oculomotor Characteristics in Ataxia-Telangiectasia: A Clinical Cohort Study using Video-OculographyAnn L Webber, Larry Abel, Heidi Rose Neilson, et al.
JIMD Reports|December 12, 2025
Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver DiseaseSophie Manoy, Claire Murray, Matthew Lynch, et al.
American Journal of Medical Genetics. Part A|April 9, 2015
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing lossLucia Gagliardi, Nathalie Nataren, Jinghua Feng, et al.
Pediatric Nephrology (Berlin, Germany)|February 25, 2022
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature reviewErin Anderson, Melanie Aldridge, Ross Turner, et al.
Pathogenetics|February 12, 2010
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell divisionCheryl Shoubridge, May Huey Tan, Tod Fullston, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Keeping an eye on congenital disorders of O-glycosylation: A systematic literature reviewRita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, et al.
JIMD Reports|November 7, 2022
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosisAshley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, et al.
Frontiers in Immunology|September 3, 2019
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase DeficiencyMarcia A Munoz, Julie Jurczyluk, Anna Simon, et al.
JIMD Reports|September 14, 2022
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case reportArthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, et al.
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