Publications by authors named "Ivo Baric"

74Publications

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

J Inherit Metab Dis 2019 11 27;42(6):1162-1175. Epub 2019 Feb 27.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12066DOI Listing
November 2019

Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440-Y449).

Clin Case Rep 2018 04 9;6(4):585-591. Epub 2018 Feb 9.

Division of Neurology Department of Pediatrics, and Genetics and Genome Biology Program The Research Institute The Hospital for Sick Children University of Toronto Toronto Ontario M5G 1X8 Canada.

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http://dx.doi.org/10.1002/ccr3.1316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889263PMC
April 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.

J Pediatr Endocrinol Metab 2018 Jan;31(1):71-75

Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1515/jpem-2017-0302DOI Listing
January 2018

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

J Inherit Metab Dis 2017 01 26;40(1):5-20. Epub 2016 Sep 26.

Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s10545-016-9972-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203850PMC
January 2017

Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

JIMD Rep 2017 21;31:101-106. Epub 2016 May 21.

Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.

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http://dx.doi.org/10.1007/8904_2016_543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388635PMC
May 2016

Respiratory chain deficiency in nonmitochondrial disease.

Neurol Genet 2015 Jun 27;1(1):e6. Epub 2015 Apr 27.

Wellcome Trust Centre for Mitochondrial Research (A.P., H.J.N., H.G., K.D., M.S.-K., P.F.C., R.H.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Medical Genetics Center (A.A., L.F., B.C., S.K., E.H.-F.), Munich, Germany; Division of Neuropediatrics and Muscle Disorders (J.K.), University Medical Center, Freiburg, Germany; Department of Paediatrics (I.B., M.C.), University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia; Department of Paediatrics (M.K.), Hospital Baden-Baden, Germany; and Department of Molecular Genetics and Diagnostics (V.K.), NIEH, Budapest, Hungary.

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http://dx.doi.org/10.1212/NXG.0000000000000006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821083PMC
June 2015

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

[Urea cycle disorders - how to prevent severe consequences of late diagnosis].

Authors:
Ivo Barić

Lijec Vjesn 2015 Jul-Aug;137(7-8):251-2

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November 2015

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

N Engl J Med 2015 Sep;373(11):1010-20

From the Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children's Hospital, Chicago (B.K.B.); Icahn School of Medicine, Mount Sinai, New York (M.B.), and Women and Children's Hospital of Buffalo, Buffalo (R.E.) - both in New York; Centre Hospitalier Universitaire Brabois-Hôpital d'Enfants, Vandoeuvre-lès-Nancy (F.F.), and University Hospital Necker-Enfants Malades and Imagine Institute, Paris (V.V.) - both in France; University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia (I.B.); Cincinnati Children's Hospital Medical Center, Cincinnati (T.A.B.); Hospital Universitario La Paz, Madrid (C.C.G.); Ege University Medical Faculty, Izmir (M.C.), and Gazi University Medical Faculty, Ankara (F.E.) - both in Turkey; Hospital Infantil de México Federico Gómez, Mexico City (A.C.-S.); Cambridge University Hospitals, Cambridge, United Kingdom (P.D.); Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa (M.D.R.), and University of Padua, Padua (M.S.) - both in Italy; Stanford University, Palo Alto (G.M.E.), and University of California, San Francisco, San Francisco ( J.K.) - both in California; Children's Hospital of Philadelphia, Philadelphia (C.F.); Alfred I. duPont Hospital for Children, Wilmington, DE (K.N.F.); University of Arizona Cancer Center, Tucson (C.L.); Villa Metabolica, Center of Pediatric and Adolescent Medicine, University of Mainz, Mainz (E.M.), and University Hospital Freiburg, Freiburg (K.O.S.) - both in Germany; Boston Children's Hospital, Boston (E.G.N.), and Synageva BioPharma, Lexington (Y.Y., S.E., S.R.-C., A.G.Q.) - both in Massachusetts; John Hunter Children's Hospital, and Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, NSW (S.N.), Royal Children's Hospital, Parkville, VIC (H.P.), and Royal Brisbane and Women's Hospital, Brisbane, QLD (M.W.) - all in Australia; Faculty Hospital, Palacky University, Olomouc, Czech Republic

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http://dx.doi.org/10.1056/NEJMoa1501365DOI Listing
September 2015

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.

J Inherit Metab Dis 2016 Mar 27;39(2):231-41. Epub 2015 Aug 27.

Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9887-8DOI Listing
March 2016

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Commentary.

Authors:
Ivo Baric

Clin Chem 2013 Aug;59(8):1164

Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.

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http://dx.doi.org/10.1373/clinchem.2013.202754DOI Listing
August 2013

Authors' response.

J Pediatr Gastroenterol Nutr 2013 Sep;57(3):e19

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http://dx.doi.org/10.1097/MPG.0b013e31829a500dDOI Listing
September 2013

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Mol Genet Metab 2012 Nov 23;107(3):611-3. Epub 2012 Aug 23.

First Faculty of Medicine, Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, Czech Republic.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921200314
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http://dx.doi.org/10.1016/j.ymgme.2012.08.014DOI Listing
November 2012

Glyceroluria and neonatal hemochromatosis.

J Pediatr Gastroenterol Nutr 2012 Oct;55(4):e126-8

Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.

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http://dx.doi.org/10.1097/MPG.0b013e3182347a26DOI Listing
October 2012

Plasma biomarker identification in S-adenosylhomocysteine hydrolase deficiency.

Electrophoresis 2011 Aug 6;32(15):1970-5. Epub 2011 Jul 6.

Department of Biotechnology, University of Rijeka, Rijeka, Croatia.

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http://dx.doi.org/10.1002/elps.201000556DOI Listing
August 2011

Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations.

Coll Antropol 2011 Mar;35(1):181-5

University of Zagreb, Zagreb University Hospital Center, Department of Internal Medicine, Division for Metabolic Diseases, Zagreb, Croatia.

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March 2011

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Biochim Biophys Acta 2011 May 2;1812(5):619-24. Epub 2011 Feb 2.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Gifu 501-1194, Japan.

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http://dx.doi.org/10.1016/j.bbadis.2011.01.015DOI Listing
May 2011

Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report.

J Comput Assist Tomogr 2010 Sep-Oct;34(5):762-5

Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia.

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http://dx.doi.org/10.1097/RCT.0b013e3181e846d7DOI Listing
October 2010

S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

J Inherit Metab Dis 2010 Dec 18;33(6):705-13. Epub 2010 Sep 18.

Pediatrix Medical Group of Texas, Fort Worth, TX, USA.

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http://dx.doi.org/10.1007/s10545-010-9171-xDOI Listing
December 2010

Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.

Coll Antropol 2010 Mar;34(1):247-50

Division of Genetics and Metabolism, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.

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March 2010

Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.

Coll Antropol 2009 Dec;33(4):1255-8

Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.

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December 2009

Inherited disorders in the conversion of methionine to homocysteine.

Authors:
Ivo Barić

J Inherit Metab Dis 2009 Aug 7;32(4):459-71. Epub 2009 Jul 7.

Department of Pediatrics, University Hospital Center and School of Medicine, Zagreb, Croatia.

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http://dx.doi.org/10.1007/s10545-009-1146-4DOI Listing
August 2009

Methylmalonic aciduria: current faces of a "classical" organic aciduria.

Authors:
Ivo Barić

J Inherit Metab Dis 2008 Jun;31(3):293-4

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http://dx.doi.org/10.1007/s10545-008-9977-yDOI Listing
June 2008

Differential metabolic consequences of fumarate hydratase and respiratory chain defects.

Biochim Biophys Acta 2008 May 14;1782(5):287-94. Epub 2008 Feb 14.

Program of Molecular Neurology Biomedicum-Helsinki, Finland.

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http://dx.doi.org/10.1016/j.bbadis.2008.01.008DOI Listing
May 2008

[Congenital disorders of glycosylation and project "Euroglycanet"].

Lijec Vjesn 2007 Aug-Sep;129(8-9):286-92

Katedra za pedijatriju, Medicinski fakultet u Zagrebu.

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April 2008

Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3.

Eur J Hum Genet 2007 Mar 13;15(3):347-51. Epub 2006 Dec 13.

Clinical Institute of Laboratory Diagnosis, University Hospital Center, Zagreb, Croatia.

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http://dx.doi.org/10.1038/sj.ejhg.5201757DOI Listing
March 2007

Studies of S-adenosylhomocysteine-hydrolase polymorphism in a Croatian population.

J Hum Genet 2006 5;51(1):21-24. Epub 2005 Nov 5.

Institute of Human Genetics, Faculty of Medicine, University of Tübingen, Wilhelmstraße 27, 72074, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10038-005-0315-zDOI Listing
March 2006

[Glutaric aciduria type 1: an example of the importance of early detection of so-called cerebral organic aciduria].

Lijec Vjesn 2003 Nov-Dec;125(11-12):312-6

Zavod za genetiku i bolesti metabolizma, Referentni centar Ministarstva zdravstva Republike Hrvatske za genetiku i bolesti metabolizma u djece, Klinika za pedijatriju Klinickoga bolnickog centra, Kispatićeva 12, 10 000 Zagreb.

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July 2004

The molecular basis of phenylalanine hydroxylase deficiency in Croatia.

Hum Mutat 2003 Apr;21(4):399

Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/humu.9115DOI Listing
April 2003