Ksenija Fumić

<i>S</i> -adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism

Ivo Barić, Ksenija Fumić, B. Glenn et al. · Proceedings of the National Academy of Sciences · 2004 · 220 citations · Full text

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Bryan Winchester, Deeksha Bali, Olaf A. Bodamer et al. · Molecular Genetics and Metabolism · 2007 · 155 citations

Medical Diagnostics, Pompe Disease, International Consensus Meeting +10

Novel<i>OCTN2</i>mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Anne‐Marie Lamhonwah, S. E. Olpin, R. J. Pollitt et al. · American Journal of Medical Genetics · 2002 · 119 citations

<i>S</i>‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

Ivo Barić, M. Ćuk, Ksenija Fumić et al. · Journal of Inherited Metabolic Disease · 2005 · 75 citations · Full text

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian A. Kroos, Marianne Hoogeveen‐Westerveld, Helen Michelakakis et al. · Human Mutation · 2012 · 71 citations