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Genetic basis of hypsarrhythmia : expanding the PHACTR1 spectrum and pathway to targeted therapy
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Palliative care for children and adults with inherited metabolic disease in Europe : an underutilised service for supportive treatment and care
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Concomitant treatment with lumasiran and nedosiran in a child with primary hyperoxaluria type 1
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Neonatal cholestasis progressing to a multisystem syndrome with liver cirrhosis in two siblings with FARSA deficiency : an evolving hepatological phenotype
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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1353-1354 -
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Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS
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Familial chylomicronemia syndrome : a novel mutation in the lipoprotein lipase gene
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Nutrient status and intakes of adults with phenylketonuria
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From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection
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EpiCare@Home : remote wearable seizure monitoring for people with epilepsy can improve delivery of care