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Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency

Journal of inherited metabolic disease, 2022-11, Vol.45 (6), p.1048-1058

2022

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Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings

European journal of paediatric neurology, 2021-05, Vol.32, p.66-72

2021

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Serum calprotectin: A circulating biomarker of the inflammatory state in Philadelphia-negative myeloproliferative neoplasms

Blood cells, molecules, & diseases, 2019-11, Vol.79, p.102344-102344, Article 102344

2019

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Circulating YKL-40 in Philadelphia-negative myeloproliferative neoplasms

Acta clinica belgica (English ed. Online), 2021-02, Vol.76 (1), p.32-39

2021

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Smjernice za dijagnostiku i liječenje odraslih bolesnika s Fabryjevom bolesti

Liječnički vjesnik, 2024-01, Vol.146 (5-6), p.157-169

2024

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Genotype-predicted tetrahydrobiopterin (BH 4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

Molecular genetics and metabolism, 2009-07, Vol.97 (3), p.165-171

2009

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Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

Journal of pediatric endocrinology & metabolism : JPEM, 2016-09, Vol.29 (9), p.1083

2016

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

Journal of pediatric endocrinology & metabolism : JPEM, 2018-01, Vol.31 (1), p.71

2018

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Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

Biochemia Medica, 2018-10, Vol.28 (3), p.030801-030801

2018

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Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene

European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.871-875

2013

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Glyceroluria and Neonatal Hemochromatosis

Journal of pediatric gastroenterology and nutrition, 2012-10, Vol.55 (4), p.e126-e128-e126-e128

2012

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Differential metabolic consequences of fumarate hydratase and respiratory chain defects

Biochimica et biophysica acta, 2008-05, Vol.1782 (5), p.287-294

2008

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Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene

European journal of human genetics : EJHG, 2012-12, Vol.21 (8), p.871-875

2012

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

JIMD Reports, Volume 31, 2017, Vol.31, p.101-106

2017

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One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia

International journal of neonatal screening, 2024-07, Vol.10 (3), p.50

2024

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Successful Pregnancy on Enzyme Replacement Therapy with Cerezyme

Clinical therapeutics, 2007, Vol.29, p.S84-S85

2007

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

European journal of pediatrics, 2017-03, Vol.176 (3), p.395-405

2017

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

Collegium antropologicum, 2009-12, Vol.33 (4), p.1255-1258

2009

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Pet godina proširenog novorođenačkog probira u Hrvatskoj – što smo postigli?

Liječnički vjesnik, 2023-01, Vol.145 (Supp 5), p.21-21

2023

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

Collegium antropologicum, 2011-03, Vol.35 (1), p.181-185

2011

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Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

Journal of pediatric endocrinology & metabolism : JPEM, 2018-10, Vol.31 (10), p.1155

2018

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

European journal of human genetics : EJHG, 2007-03, Vol.15 (3), p.347-351

2007

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The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias

Klinische Padiatrie, 2019-03, Vol.231 (2), p.74

2019

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S-Adenosylhomocysteine Hydrolase Deficiency in a Human: A Genetic Disorder of Methionine Metabolism

Proceedings of the National Academy of Sciences - PNAS, 2004-03, Vol.101 (12), p.4234-4239

2004

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Current Status of Newborn Screening in Southeastern Europe

Frontiers in pediatrics, 2021-05, Vol.9, p.648939-648939

2021

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Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings

Serum calprotectin: A circulating biomarker of the inflammatory state in Philadelphia-negative myeloproliferative neoplasms

Circulating YKL-40 in Philadelphia-negative myeloproliferative neoplasms

Smjernice za dijagnostiku i liječenje odraslih bolesnika s Fabryjevom bolesti

Genotype-predicted tetrahydrobiopterin (BH 4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

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

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene

Glyceroluria and Neonatal Hemochromatosis

Differential metabolic consequences of fumarate hydratase and respiratory chain defects

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene

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

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia

Successful Pregnancy on Enzyme Replacement Therapy with Cerezyme

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

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

Pet godina proširenog novorođenačkog probira u Hrvatskoj – što smo postigli?

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

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

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

The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias

S-Adenosylhomocysteine Hydrolase Deficiency in a Human: A Genetic Disorder of Methionine Metabolism

Current Status of Newborn Screening in Southeastern Europe

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