Ivo Barić Selected Research

Enzymes

10/2018	Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.
1/2017	Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
9/2016	Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature.
3/2015	[Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy].
5/2008	Differential metabolic consequences of fumarate hydratase and respiratory chain defects.

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Ivo Barić Research Topics

Disease

4	Muscular Diseases (Myopathy) 01/2022 - 08/2013
4	Hypermethioninemia 01/2021 - 11/2012
3	Wolman Disease (Wolman's Disease) 01/2022 - 03/2015
3	Hyperammonemia 03/2021 - 09/2016
3	Homocystinuria 01/2021 - 03/2011
3	Inborn Urea Cycle Disorders 01/2021 - 03/2019
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 08/2013
3	Cardiomyopathies (Cardiomyopathy) 01/2018 - 11/2015
3	Muscle Hypotonia (Hypotonia) 01/2018 - 11/2003
3	Seizures (Absence Seizure) 01/2018 - 09/2016
2	MELAS Syndrome (Syndrome, MELAS) 01/2021 - 05/2008
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2021 - 08/2007
2	Propionic Acidemia 01/2021 - 11/2015
2	Methylenetetrahydrofolate reductase deficiency 01/2021 - 01/2019
2	Phenylketonurias (Phenylketonuria) 01/2021 - 07/2009
2	Liver Failure 01/2020 - 03/2015
2	Brain Diseases (Brain Disorder) 03/2019 - 05/2008
2	Hypoglycemia (Reactive Hypoglycemia) 01/2018 - 09/2016
2	Ornithine Carbamoyltransferase Deficiency Disease 03/2016 - 11/2015
2	Megalencephaly 11/2015 - 11/2003
2	Fibrosis (Cirrhosis) 09/2015 - 03/2015
1	Neurologic Manifestations (Neurological Manifestations) 05/2021
1	Gaucher Disease (Gaucher's Disease) 05/2021
1	Acute Intermittent Porphyria (Porphyria, Acute) 01/2021
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2021
1	succinic semialdehyde dehydrogenase deficiency 01/2021
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2021
1	Autism Spectrum Disorder 01/2021
1	Cerebrotendinous Xanthomatosis 01/2021
1	Smith-Lemli-Opitz Syndrome 01/2021
1	Hartnup Disease 01/2021
1	Hepatolenticular Degeneration (Wilson's Disease) 01/2021
1	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 01/2021
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2021
1	Optic Atrophy 01/2020
1	Pelger-Huet Anomaly 01/2020
1	Tyrosinemias (Tyrosinemia) 04/2019
1	Free sialic acid storage disease 10/2018
1	Agammaglobulinemia (Hypogammaglobulinemia) 10/2018
1	Gyrate Atrophy 10/2018
1	Galactosemias (Galactosemia) 01/2018
1	Hyperphosphatasia with Mental Retardation 01/2018
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2018
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018
1	Sialorrhea 12/2017
1	Canavan Disease (Leukodystrophy, Spongiform) 01/2017
1	Hepatomegaly 01/2017
1	Cognitive Dysfunction 09/2016

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 01/2020 - 03/2011
5	EnzymesIBA 10/2018 - 05/2008
4	Amino Acids FDA Link 01/2021 - 03/2011
3	Creatine Kinase (Creatine Phosphokinase)IBA 01/2022 - 08/2013
3	AcidsIBA 01/2021 - 11/2003
3	Ligases (Synthetase)IBA 11/2019 - 03/2011
2	Sebelipase alfaIBA 01/2022 - 09/2015
2	Adenosine Triphosphate (ATP)IBA 03/2021 - 05/2008
2	CholesterolIBA 01/2021 - 06/2012
2	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 11/2019 - 11/2015
2	DNA (Deoxyribonucleic Acid)IBA 04/2019 - 01/2016
2	Alkaline PhosphataseIBA 01/2018 - 12/2009
2	Transfer RNA (tRNA)IBA 01/2018 - 08/2013
2	S-AdenosylhomocysteineIBA 01/2017 - 12/2010
2	Methionine (L-Methionine)FDA Link 01/2017 - 12/2010
2	Transaminases (Aminotransferases)IBA 01/2017 - 12/2010
2	S-Adenosylmethionine (Ademetionine)IBA 01/2017 - 12/2010
1	Ambroxol (Mucosolvan)IBA 05/2021
1	purineIBA 01/2021
1	Adenylosuccinate lyase deficiencyIBA 01/2021
1	Adenylosuccinate LyaseIBA 01/2021
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2021
1	CopperIBA 01/2021
1	CreatineIBA 01/2021
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2021
1	Heme (Haem)IBA 01/2021
1	Phosphotransferases (Kinase)IBA 01/2021
1	IronIBA 01/2021
1	Oxidoreductases (Dehydrogenase)IBA 01/2021
1	Arginine (L-Arginine)FDA Link 11/2019
1	CitrullineIBA 11/2019
1	HHH syndromeIBA 11/2019
1	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 04/2019
1	Tyrosine (L-Tyrosine)FDA Link 04/2019
1	succinylacetoneIBA 04/2019
1	Methionine AdenosyltransferaseIBA 01/2019
1	Immunoglobulin G (IgG)IBA 10/2018
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 10/2018
1	Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA 10/2018
1	Galactose (Galactopyranose)FDA LinkGeneric 01/2018
1	galactose-1-phosphateIBA 01/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2018
1	Carnitine (L-Carnitine)FDA LinkGeneric 01/2018
1	aspartoacylaseIBA 01/2017
1	AmmoniaIBA 09/2016

Therapy/Procedure

2	Therapeutics 04/2019 - 09/2015
2	Enzyme Replacement Therapy 09/2015 - 03/2015
1	Renal Dialysis (Hemodialysis) 03/2021
1	Induced Hypothermia 03/2019
1	Ketogenic Diet 01/2018
1	Hearing Aids (Hearing Aid) 12/2017
1	Cochlear Implants (Cochlear Implant) 12/2017