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JIMD Reports|February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case reportCurtis R Coughlin, Keith Hyland, Rebecca Randall, et al.JIMD Reports|February 23, 2013
Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physiciansDavid J Coman, Ian M Hayes, Veronica Collins, et al.JIMD Reports|February 23, 2013
Outcomes of phenylketonuria with relevance to follow-upF J van Spronsen, A Bélanger-QuintanaJIMD Reports|February 23, 2013
Cardiac arrest in kearns-sayre syndromeIngrid van Beynum, Eva Morava, Marjan Taher, et al.JIMD Reports|February 23, 2013
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiencyK Hayasaka, C Numakura, K Toyota, et al.JIMD Reports|February 23, 2013
Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemiaMatthias Gautschi, Mladen Pavlovic, Jean-Marc NuofferJIMD Reports|February 23, 2013
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrationsFlorina Ion Popa, Silvia Perlini, Francesca Teofoli, et al.JIMD Reports|February 23, 2013
Long-term pharmacological management of phenylketonuria, including patients below the age of 4 yearsM L Couce, M D Bóveda, E Valerio, et al.JIMD Reports|February 23, 2013
Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patientsSébastien Lévesque, Marie Lambert, Aspasia Karalis, et al.JIMD Reports|February 23, 2013
Large mitochondrial DNA deletion in an infant with addison diseaseGloria P Duran, A Martinez-Aguayo, H Poggi, et al.Pageof 127