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Journal of Inherited Metabolic Disease|September 10, 2005
Body composition in young adults with inborn errors of protein metabolism--a pilot studyG Wilcox, B J G Strauss, D E M Francis, et al.Molecular Genetics and Metabolism|April 9, 2008
Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemiaA Boneh, S Allan, D Mendelson, et al.The Journal of Pediatrics|March 27, 2007
Cardiac manifestations in oxidative phosphorylation disorders of childhoodJ Yaplito-Lee, R Weintraub, K Jamsen, et al.Molecular Genetics and Metabolism|September 16, 2018
Malignant brain tumors in patients with glutaric aciduria type IA Serrano Russi, S Donoghue, A Boneh, et al.Journal of Paediatrics and Child Health|March 12, 2002
Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemmaD F Kelly, A Boneh, S Pitsch, et al.Neurology|November 13, 2002
Diagnostic criteria for respiratory chain disorders in adults and childrenF P Bernier, A Boneh, X Dennett, et al.Molecular Genetics and Metabolism|February 21, 2006
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysisA Boneh, B S Andresen, N Gregersen, et al.American Journal of Medical Genetics|December 18, 2001
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiencyJ L Johnson, K E Coyne, K V Rajagopalan, et al.Human Genetics|May 26, 1998
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemiaS Kure, H Mandel, M O Rolland, et al.American Journal of Medical Genetics|July 19, 2002
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiencyA Morrone, S Malvagia, M A Donati, et al.Pageof 6