Ivo Baric

Summary

Affiliation: University Hospital Center
Country: Croatia

Publications

  1. pmc Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene
    Ivo Barić
    1 Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia 2 School of Medicine, University of Zagreb, Zagreb, Croatia
    Eur J Hum Genet 21:871-5. 2013
  2. doi request reprint Inherited disorders in the conversion of methionine to homocysteine
    Ivo Baric
    Department of Pediatrics, University Hospital Center and School of Medicine, Zagreb, Croatia
    J Inherit Metab Dis 32:459-71. 2009
  3. pmc S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism
    Ivo Baric
    Department of Pediatrics, University Hospital Center, Kispaticeva 12, 10000 Zagreb, Croatia
    Proc Natl Acad Sci U S A 101:4234-9. 2004
  4. pmc S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy
    I Baric
    Department of Pediatrics, University Hospital Center and School of Medicine, Zagreb, Croatia
    J Inherit Metab Dis 28:885-902. 2005
  5. pmc A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide
    Robert Beluzić
    Division of Molecular Medicine, Institute Ruder Boskovic, Bijenicka 54, 10000 Zagreb, Croatia
    Biochem J 400:245-53. 2006
  6. ncbi request reprint Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene
    Danijela Petković Ramadza
    Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
    Coll Antropol 33:1255-8. 2009
  7. ncbi request reprint Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations
    Diana Muačević-Katanec
    University of Zagreb, Zagreb University Hospital Center, Department of Internal Medicine, Division for Metabolic Diseases, Zagreb, Croatia
    Coll Antropol 35:181-5. 2011
  8. ncbi request reprint Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3
    Ksenija Fumic
    Clinical Institute of Laboratory Diagnosis, University Hospital Center, Zagreb, Croatia
    Eur J Hum Genet 15:347-51. 2007
  9. doi request reprint Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
    Iva Karacić
    School of Medicine, Zagreb, Croatia
    Mol Genet Metab 97:165-71. 2009
  10. ncbi request reprint Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation
    Sanda Huljev Frković
    Division of Genetics and Metabolism, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia
    Coll Antropol 34:247-50. 2010

Collaborators

  • Zeljko Reiner
  • Diana Muačević-Katanec
  • S Harvey Mudd
  • Johannes A Mayr
  • Marko Culjat
  • C Wagner
  • Nenad Blau
  • Beat Thony
  • Steven Zeisel
  • Etienne Mornet
  • Andreas Schulze
  • Ksenija Fumic
  • Vladimir Sarnavka
  • Danijela Petković Ramadza
  • Robert Beluzić
  • Ivo Barić
  • Sanda Huljev Frković
  • Davor Begovic
  • Iva Karacić
  • M Judas
  • M Cuk
  • R Beluzić
  • Mario Cuk
  • Tea Pavkov
  • Oliver Vugrek
  • Danijela Petković Ramadža
  • Diana Muačević-Katanec
  • Tihomir Kekez
  • Ksenija Fumić
  • Franz A Zimmermann
  • Zoran Mitrović
  • Leo Pažanin
  • Wolfgang Sperl
  • Ljerka Cvitanović Å ojat
  • Ljiljana Letica
  • Ivana Tonković Durisević
  • Kristina Crkvenac Gornik
  • Dubravka Muzinić
  • Ruzica Lasan Trcić
  • G Sedmak
  • Feodora Stipoljev
  • David Meili
  • U Hehr
  • Kristina Potocki
  • S Strahl
  • K Fumic
  • Dusko Mardesic
  • V Sarnavka
  • T Willer
  • C Gross
  • Caroline Heintz
  • M Rados
  • O Vugrek
  • T Pavkov
  • Ivana Mijić
  • Doris Kloor
  • Igor Jurak

Detail Information

Publications13

  1. pmc Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene
    Ivo Barić
    1 Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia 2 School of Medicine, University of Zagreb, Zagreb, Croatia
    Eur J Hum Genet 21:871-5. 2013
    ..The mutation was heteroplasmic with a mutational load between 88 and 99% in COX-negative fibres. This case contributes to the genetic heterogeneity of mitochondrial diseases caused by mutations in mitochondrial tRNA genes. ..
  2. doi request reprint Inherited disorders in the conversion of methionine to homocysteine
    Ivo Baric
    Department of Pediatrics, University Hospital Center and School of Medicine, Zagreb, Croatia
    J Inherit Metab Dis 32:459-71. 2009
    ..This review summarizes current knowledge of three inherited disorders in this metabolic pathway and draws attention to their much broader significance for human health and understanding of important biological processes...
  3. pmc S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism
    Ivo Baric
    Department of Pediatrics, University Hospital Center, Kispaticeva 12, 10000 Zagreb, Croatia
    Proc Natl Acad Sci U S A 101:4234-9. 2004
    ..Gene analysis revealed two mutations in exon 4: a maternally derived stop codon, and a paternally derived missense mutation. We discuss reasons for biochemical abnormalities and pathophysiological aspects of AdoHcy hydrolase deficiency...
  4. pmc S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy
    I Baric
    Department of Pediatrics, University Hospital Center and School of Medicine, Zagreb, Croatia
    J Inherit Metab Dis 28:885-902. 2005
    ..The disease seems to be at least to some extent treatable, as shown by improved myelination and psychomotor development during dietary methionine restriction and supplementation with creatine and phosphatidylcholine...
  5. pmc A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide
    Robert Beluzić
    Division of Molecular Medicine, Institute Ruder Boskovic, Bijenicka 54, 10000 Zagreb, Croatia
    Biochem J 400:245-53. 2006
    ..In summary, a single mutation in the AdoHcyase affecting both the oxidation state of bound co-factor NAD and enzyme stability is present in a human with AdoHcyase deficiency...
  6. ncbi request reprint Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene
    Danijela Petković Ramadza
    Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
    Coll Antropol 33:1255-8. 2009
    ..The same mutation has been previously associated with a more severe perinatal form also in a Croatian family what indicates a possible common ancestral origin and phenotypic variability potential of c.1402G>A mutation of TNSALP gene...
  7. ncbi request reprint Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations
    Diana Muačević-Katanec
    University of Zagreb, Zagreb University Hospital Center, Department of Internal Medicine, Division for Metabolic Diseases, Zagreb, Croatia
    Coll Antropol 35:181-5. 2011
    ..DNA analysis showed three detectable mutations in the cystathionine beta-synthetase gene, 1278T:c.833T>C, and two new mutations, V372G:c.1133T > G, and D520G:c.1558A > G in the aternatively spliced exon 15...
  8. ncbi request reprint Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3
    Ksenija Fumic
    Clinical Institute of Laboratory Diagnosis, University Hospital Center, Zagreb, Croatia
    Eur J Hum Genet 15:347-51. 2007
    ....
  9. doi request reprint Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
    Iva Karacić
    School of Medicine, Zagreb, Croatia
    Mol Genet Metab 97:165-71. 2009
    ..In contrast to previous assumption and with exception of the p.E390G mutation, single allele mutations are not reliable for the selection of potential PKU candidates for pharmacological therapy with BH4...
  10. ncbi request reprint Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation
    Sanda Huljev Frković
    Division of Genetics and Metabolism, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia
    Coll Antropol 34:247-50. 2010
    ..Despite the excessive postnatal growth we found low serum growth hormone levels and reduced response to pharmacological stimulation test. This is also the first report of a postnatal patient in our country...
  11. doi request reprint Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report
    Marko Culjat
    Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia
    J Comput Assist Tomogr 34:762-5. 2010
    ..The findings in a neonate are consistent with reports in older children with NKH, confirming that pathological changes typical for NKH can be seen in the first postnatal week...
  12. doi request reprint S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues
    R Beluzić
    Institute Ruder Boskovic, Division of Molecular Medicine, Bijenicka 54, 10000 Zagreb, Croatia
    Biochem Biophys Res Commun 368:30-6. 2008
    ..In view of our mutational analysis, we consider changes in charge and the sterical incompatibility in mutant p.A89V protein as main reason for enzyme malfunction with AdoHcyase deficiency as consequence...
  13. doi request reprint POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons
    M Judas
    Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia
    Neuropediatrics 40:6-14. 2009
    ....