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Abbreviation : OA
Long Form : organic acidaemias
No. Year Title Co-occurring Abbreviation
2018 Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism. MSUD, RRT, UCD
2017 Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome. IEM, Mean SE, PA
2017 Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism. E-IMD, HRQoL, IT-IEM, UCD
2017 Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. AA, AADC, AKUH, CBS, EMA, GA-1, MSUD, NKH, SUCL
2017 The challenge of nutritional profiling of a protein-free feed module for children on low protein tube feeds with organic acidaemias. ---
2016 The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better? IVA, MMA, PA
2015 Diagnosis and clinical features of organic acidemias: A hospital-based study in a single center in Damascus, Syria. GC-MS, MS/MS
2014 Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening. NBS, UCD
2014 Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review. CNS, HRQoL, IT-IEM, MSUD, TYR 1, UCD
10  2013 Quality of life in children treated with restrictive diet for inherited metabolic disease. AMD, CMD, IMD, QOL
11  2009 Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors. BMI, IVA, MMA, PA
12  2009 Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. MMA, PA, RC, TCA
13  2009 [Inborn errors of metabolism in adults]. IE, IEM, UCD
14  2004 Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. MCADD, MS-MS, mtFATOD, NBS
15  2000 Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand. GC-MS