V. Sarnavka

发表

Newborn screening in southeastern Europe.

T. Battelino, M. Stojiljkovic, L. Grimci, 2014, Molecular genetics and metabolism.

S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism

I. Pogribny, S. J. James, S. Zeisel, 2004, Proceedings of the National Academy of Sciences of the United States of America.

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

K. Potočki, Danijela Petković Ramadža, I. Barić, 2009, Collegium antropologicum.

S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

I. Pogribny, S. Zeisel, M. Radoš, 2005, Journal of Inherited Metabolic Disease.

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 molecular basis of phenylalanine hydroxylase deficiency in Croatia

J. Zschocke, G. Hoffmann, I. Barić, 2003, Human mutation.

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

I. Barić, D. Mužinić, V. Sarnavka, 2010, Collegium antropologicum.

The role of plasma exchange in the treatment of severe forms of hemolytic-uremic syndrome in childhood.

M. Novak, V. Benjak, Z. Puretić, 1995, Artificial organs.

Mucopolysaccharidosis type 1 : First experiences with enzyme replacement therapy (ERT) in Croatia

D. Antičević, I. Barić, K. Fumic, 2004 .

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.

Adrenocorticotropic hormone insensitivity associated with autonomic nervous system disorders

J. Vuković, Z. Sabol, M. Dumić, 1991, European Journal of Pediatrics.

Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries

T. Battelino, M. Stojiljkovic, L. Grimci, 2015, Orphanet Journal of Rare Diseases.

[Vitamin B12 deficiency in children--underestimated danger in the light of new knowledge].

M. Baumgartner, S. Puseljic, I. Barić, 2011, Lijecnicki vjesnik.

Croatia has reached iodine sufficiency

V. Jureša, N. Dabelić, Z. Kusic, 2003, Journal of endocrinological investigation.

Molecular Analysis and Electromyoneurographic Abnormalities in Croatian Children with Proximal Spinal Muscular Atrophies

P. Hrabac, N. Barišić, T. Babić, 1998, Clinical chemistry and laboratory medicine.

Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations

M. Tesařová, J. Zeman, I. Barić, 2006, Journal of Inherited Metabolic Disease.

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 .

POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.

G. Sedmak, M. Judas, M. Radoš, 2009, Neuropediatrics.

The fourth S-adenosylhomocysteine hydrolase deficient patient : Further evidence of congenital miopathy

I. Barić, S. Mudd, M. Lovrić, 2007 .

Corticosterone methyloxydase deficiency type II in a Croatian girl

M. Dumić, V. Sarnavka, D. Mardešić, 1992, Journal of endocrinological investigation.

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.