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Ljerka Cvitanović-Šojat

University of Zagreb

7

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297

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The ethical framework for performing research with rare inherited neurometabolic disease patients

2017 European Journal of Pediatrics
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Phenotype variability in patients with infantile spinal muscular atrophy: Distal muscle weakness and peripheral neuropathy in compound heterozygotes with SMN1 gene deletions

2017 European Journal of Paediatric Neurology
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PP15.13 – 2509: European network about inherited neurometabolic diseases

2015 European Journal of Paediatric Neurology
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Novel OCTN2 mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy

2002 American Journal of Medical Genetics
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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

1990 Pediatric Research
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Citations (173)