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Journal of Inherited Metabolic Disease|January 29, 2020
Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profilingJoep L A Claesen, Erik Koomen, Imre F Schene, et al.Journal of Inherited Metabolic Disease|June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelinesDaniah Albokhari, Bobby G Ng, Alis Guberinic, et al.Journal of Inherited Metabolic Disease|January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new casesMerel A Post, Isis de Wit, Fokje S M Zijlstra, et al.Journal of Inherited Metabolic Disease|January 2, 2023
How guideline development has informed clinical research for organic acidurias (et vice versa)Patrick Forny, Friederike Hörster, Matthias R Baumgartner, et al.Journal of Inherited Metabolic Disease|December 22, 2022
Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individualsMattias Lissing, Daphne Vassiliou, Ylva Floderus, et al.Journal of Inherited Metabolic Disease|June 27, 2022
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patientsLisette H Koens, Inge Tuitert, Hans Blokzijl, et al.Journal of Inherited Metabolic Disease|June 17, 2022
Pregnancy in cystinosis patients with chronic kidney disease: A European case seriesAude Servais, Mirian C H Janssen, Hannah Blakey, et al.Journal of Inherited Metabolic Disease|October 8, 2021
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findingsPäivi Vieira, Irina I Nagy, Elisa Rahikkala, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapyS M Donn, J G ThoeneJournal of Inherited Metabolic Disease|January 1, 1985
Gaucher disease (type 1): physical and kinetic properties of liposomal and soluble 'acid' beta-glucosidaseM CarrollPageof 429