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Journal of Inherited Metabolic Disease|March 9, 2019
Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidineR A Wevers, M Christensen, U F H Engelke, et al.
Clinical Genetics|July 28, 2015
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive functionL Borgwardt, E R Danielsen, C Thomsen, et al.
Acta Anaesthesiologica Scandinavica|October 6, 1997
In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia GroupH Ording, V Brancadoro, S Cozzolino, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|August 26, 2018
Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adultsJ D Hald, L Folkestad, C Z Swan, et al.
Journal of Inherited Metabolic Disease|March 16, 2013
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose studyL Borgwardt, C I Dali, J Fogh, et al.
British Journal of Anaesthesia|April 24, 2016
Effects of using the simplified airway risk index vs usual airway assessment on unanticipated difficult tracheal intubation - a cluster randomized trial with 64,273 participantsA K Nørskov, J Wetterslev, C V Rosenstock, et al.
Human Genetics|December 12, 2013
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeR S Møller, L R Jensen, S M Maas, et al.
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