L. Cvitanović-Šojat

发表

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.

C. Stanley, S. Cederbaum, A. Ganguly, 2002, Molecular genetics and metabolism.

Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report

M. Malenica, L. Cvitanović-Šojat, M. Kukuruzović, 2014 .

Niemann-Pick disease type C: mutations of NPC1 gene and the course of disease

M. Malenica, A. Bielen, T. Žigman, 2014 .

B. Bergman-Marković, I. Bielen, S. Butković-Soldo, 2009, Collegium antropologicum.

Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy

S. Dimauro, E. Bertini, R. Pagon, 1990, Pediatric Research.

Social and medical care of preschool children with epilepsy in Croatia: population-based survey.

B. Bergman-Marković, I. Bielen, S. Butković-Soldo, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

J. Armstrong, A. Ormazabal, R. Artuch, 2015, Orphanet Journal of Rare Diseases.

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

T. Levade, F. Sabourdy, E. Paschke, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

L. de Meirleir, P. Divry, G. Besley, 2002, American journal of medical genetics.

Prospective surveillance of Croatian pregnant women on lamotrigine monotherapy--aspects of pre-pregnancy counseling and drug monitoring.

V. Demarin, A. Fucic, I. Mikula, 2009, Acta clinica Croatica.

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

V. Giannuzzi, F. Bonifazi, A. Ceci, 2017, European Journal of Pediatrics.

Quality of life in children with epilepsy

Z. Sabol, L. Cvitanović-Šojat, B. Mučić-Pucić, 2002 .

Distinctive phenotype in a girl with Rett syndrome and a novel 25 bp deletion mutation in exon 4 (c.881_905del25, nm_004992.3) of the MECP2 gene

S. Seneca, M. Malenica, M. Katavić, 2014 .

Prevalence of epilepsy in Croatia: a population‐based survey

B. Bergman-Marković, L. Vuksic, I. Bielen, 2007, Acta neurologica Scandinavica.

Living with epilepsy

Z. Poljaković, I. Bielen, I. Lušić, 2001 .

Cardiomyopathies in children with neuromuscular disorders.

L. Cvitanović-Šojat, 1992, Neurologia croatica : glasilo Udruzenja neurologa Jugoslavije = official journal of Yugoslav Neurological Association.