D. Ramadža

发表

The natural history of classic galactosemia: lessons from the GalNet registry

S. Waisbren, M. Hochuli, S. Wortmann, 2019, Orphanet Journal of Rare Diseases.

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

N. Barišić, I. Barić, Ž. Mustapić, 2019, Klinische Pädiatrie.

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.

N. Blau, B. Thöny, I. Barić, 2009, Molecular genetics and metabolism.

[Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy].

M. Kralik, S. Puseljic, I. Barić, 2015, Lijecnicki vjesnik.

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

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

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

R. Santer, I. Barić, M. Ćuk, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

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

I. Rivera, S. Puseljic, I. Barić, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

S. Almashanu, D. Hougaard, M. Kocova, 2021, International journal of neonatal screening.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

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

T. Žigman, I. Barić, K. Ohno, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

New symptomatic patients with glutaric aciduria type 3: further evidence of high prevalence of the c.1006C>T (p.Arg336Trp) mutation

J. Zschocke, I. Barić, K. Fumic, 2016 .

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

Ž. Reiner, W. Sperl, Zoran Mitrović, 2012, European Journal of Human Genetics.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

P. Robinson, D. Horn, D. Wieczorek, 2013, European Journal of Human Genetics.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

P. Striano, S. Vernes, F. Zara, 2023, Human Genetics.

Postauthorization safety study of betaine anhydrous

M. Baumgartner, H. Blom, F. Mochel, 2022, Journal of inherited metabolic disease.

Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.

D. Rogić, T. Žigman, I. Barić, 2019, Clinical mass spectrometry.

Advanced skeletal muscle imaging in S-Adenosylhomocysteine Hydrolase Deficiency: A case series

I. Barić, M. Čavka, Ivana Kuhtić, 2021 .

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

A. Hlavatá, J. Zeman, E. Hrubá, 2017, Clinical genetics.

Kongenitalni hiperinzulinizam--novosti o nastanku, dijagnosticiranju i liječenju bolesti [Congenital hyperinsulinism--novel insights into etiology, diagnosis and treatment].

A. Antabak, I. Barić, V. Benjak, 2012 .

Experiences with galactosemia in Croatia

Anita Špehar Uroić, T. Žigman, S. Puseljic, 2023, Liječnički vjesnik.

GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

R. Møller, A. Bayat, A. Gil-Nagel, 2023, Clinical genetics.

De novo mutation in desmin gene causing dilated cardiomyopathy requiring ECMO treatment: A clinical report

T. Žigman, K. G. Jerčić, D. Dilber, 2024, Human Gene.