Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

V. Sarnavka · SciRah

Researcher profile · Semantic Scholar

V. Sarnavka

Share profile

V. Sarnavka — researcher profile on SciRah

h-index: 12
Works: 99
Citations: 718

Most-cited papers

S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism
I. Barić, K. Fumić, B. Glenn, M. Ćuk +16 more
2004Proceedings of the National Academy of Sciences of the United States of America225 citations Open access
Semantic Scholar
S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy
I. Barić, M. Ćuk, K. Fumić, O. Vugrek +12 more
2005Journal of Inherited Metabolic Disease84 citations Open access
Semantic Scholar
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
I. Karačić, David Meili, V. Sarnavka, Caroline Heintz +6 more
2009Molecular Genetics and Metabolism76 citations
Semantic Scholar
Newborn screening in southeastern Europe.
U. Grošelj, M. Tanšek, A. Šmon, N. Angelkova +26 more
2014Molecular Genetics and Metabolism51 citations
Semantic Scholar
Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries
Mojca Žerjav Tanšek, U. Grošelj, N. Angelkova, D. Anton +23 more
2015Orphanet Journal of Rare Diseases44 citations Open access
Semantic Scholar
The molecular basis of phenylalanine hydroxylase deficiency in Croatia
J. Zschocke, A. Preusse, V. Sarnavka, K. Fumić +3 more
2003Human Mutation27 citations Open access
Semantic Scholar
Croatia has reached iodine sufficiency
Z. Kusic, S. Novosel, N. Dabelić, M. Punda +13 more
2003Journal of Endocrinological Investigation25 citations
Semantic Scholar
Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations
M. Maradin, K. Fumić, H. Hansíková, M. Tesařová +5 more
2006Journal of Inherited Metabolic Disease21 citations Open access
Semantic Scholar
The role of plasma exchange in the treatment of severe forms of hemolytic-uremic syndrome in childhood.
J. Slaviček, Z. Puretić, M. Novak, V. Sarnavka +3 more
1995Artificial Organs18 citations
Semantic Scholar
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.
M. Judas, G. Sedmak, M. Radoš, V. Sarnavka +7 more
2009Neuropediatrics17 citations
Semantic Scholar
Adrenocorticotropic hormone insensitivity associated with autonomic nervous system disorders
M. Dumić, A. Radica, Z. Sabol, V. Plavšić +3 more
1991European Journal of Pediatrics17 citations
Semantic Scholar
The fourth S-adenosylhomocysteine hydrolase deficient patient : Further evidence of congenital miopathy
M. Ćuk, M. Lovrić, K. Fumić, S. Mudd +3 more
200712 citations
Semantic Scholar
Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
D. Ninković, V. Sarnavka, A. Bašnec, M. Ćuk +5 more
2016Journal of Pediatric Endocrinology & Metabolism (JPEM)10 citations
Semantic Scholar
A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity
I. Barić, V. Sarnavka, K. Fumić, Miljenka Maradin +3 more
2001Journal of Inherited Metabolic Disease10 citations
Semantic Scholar
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias
D. Ninković, Ž. Mustapić, D. Bartoniček, V. Benjak +12 more
2019Klinische Pädiatrie8 citations
Semantic Scholar
Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.
S. Frković, I. T. Durisević, R. L. Trčić, V. Sarnavka +5 more
2010Collegium Antropologicum8 citations
Semantic Scholar
Immunological aspects of progeria (Hutchinson-Gilford syndrome) in a 15-month-old child
M. Harjacek, D. Batinić, V. Sarnavka, B. Uz̆arević +2 more
1990European Journal of Pediatrics8 citations
Semantic Scholar
Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.
Danijela Petković Ramadža, F. Stipoljev, V. Sarnavka, D. Begović +4 more
2009Collegium Antropologicum6 citations
Semantic Scholar
New symptomatic patients with glutaric aciduria type 3: further evidence of high prevalence of the c.1006C>T (p.Arg336Trp) mutation
A. Škaričić, M. Zekušić, K. Fumić, K. Bilić +5 more
20165 citations
Semantic Scholar
Racionalna dijagnostika nasljednih i prirođenih bolesti
Z. Alfirevic, I. Barić, I. Barišić, N. Barišić +37 more
20055 citations
Semantic Scholar
Molecular Analysis and Electromyoneurographic Abnormalities in Croatian Children with Proximal Spinal Muscular Atrophies
N. Barišić, J. Sertić, C. Billi, I. Barić +6 more
1998Clinical Chemistry and Laboratory Medicine5 citations
Semantic Scholar
Molecular basis and clinical presentation of classic galactosemia in a Croatian population
D. Ramadža, V. Sarnavka, J. Vuković, K. Fumić +8 more
2017Journal of Pediatric Endocrinology & Metabolism (JPEM)4 citations
Semantic Scholar
[Glutaric aciduria type 1: an example of the importance of early detection of so-called cerebral organic aciduria].
I. Barić, Krešimir Baraka, M. Maradin, D. Bartoniček +3 more
2003Liječnički vjesnik4 citations
Semantic Scholar
Corticosterone methyloxydase deficiency type II in a Croatian girl
D. Mardešić, V. Sarnavka, M. Dumić, V. Stipić
1992Journal of Endocrinological Investigation4 citations
Semantic Scholar
Osteomyelitis as a complication of capillary blood collection for neonatal screening
G. Gjurić, E. Nikolić, V. Benjak, D. Mardešić +1 more
19923 citations
Semantic Scholar
Osteopenia in premature infants
V. Sarnavka, M. Cuk
20042 citations
Semantic Scholar
A 17-month-old boy with bowed legs
I. Barić, V. Škrabić, D. Begović, V. Sarnavka +1 more
2000European Journal of Pediatrics2 citations
Semantic Scholar
Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes.
D. Begović, V. Hitrec, R. Lasan, Ljiljana Letica +3 more
1998Croatian Medical Journal2 citations
Semantic Scholar
Complex disorder of neuronal migration in an infant with possible congenital cytomegalovirus infection.
D. Mardešić, Z. Sučić, J. Papa, I. Senečić +2 more
1996Acta medica Croatica : casopis Hravatske akademije medicinskih znanosti2 citations
Semantic Scholar
Screening of newborns for congenital hypothyroidism in Croatia--organization and first results.
V. Sarnavka, D. Mardešić, G. Gjurić, M. Vlatkovic +3 more
1990Acta medica Iugoslavica2 citations
Semantic Scholar
[Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - different HLA genotypes in 2 brothers].
M. Dumić, V. Plavšić, L. Brkljačić, V. Sarnavka +3 more
1983Liječnički vjesnik2 citations
Semantic Scholar
Muscle disease in S-adenosylhomocysteine hydrolase deficiency:dystrophy as a consequence of dysmethylation?
D. Ramadža, Željka Majić, M. Ćuk, Brčić L Zekušić Marija Prutki M +8 more
20161 citations
Semantic Scholar
Kongenitalni hiperinzulinizam--novosti o nastanku, dijagnosticiranju i liječenju bolesti [Congenital hyperinsulinism--novel insights into etiology, diagnosis and treatment].
I. Martinac, M. Bogović, S. Batinica, V. Sarnavka +15 more
20121 citations
Semantic Scholar
S-adenosylhomocysteine hydrolase deficiency- a review of nine patients
I. Barić, M. Ćuk, Danijela Petković Ramadža, K. Bilić +6 more
20121 citations
Semantic Scholar
Mitochondriopathy presenting with immune disorder
I. Karačić, A. Gagro, R. Horvath, M. Ćuk +13 more
20081 citations
Semantic Scholar
S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency: myopathy seems to be congenital
I. Barić, K. Fumić, O. Vugrek, M. Ćuk +8 more
20051 citations
Semantic Scholar
Failure to thrive
V. Sarnavka, M. Cuk, Marko Vukasović
20041 citations
Semantic Scholar
Mucopolysaccharidosis type 1 : First experiences with enzyme replacement therapy (ERT) in Croatia
M. Cuk, K. Fumić, M. Maradin, V. Sarnavka +5 more
20041 citations
Semantic Scholar
Experiences with galactosemia in Croatia
Ana Šmaguc, D. Ramadža, V. Sarnavka, V. Krželj +15 more
2023Liječnički vjesnik0 citations Open access
Semantic Scholar
A path towards a cultured skin fibroblast biobank of patients with inherited errors of metabolism in Croatia
M. Zekušić, K. Fumić, K. Bilić, A. Škaričić +6 more
20170 citations Open access
Semantic Scholar
Importance of measuring amino acid concentrations on tandem mass spectrometer in follow-up treatment of ornithinemia: a case report
M. Zekušić, A. Škaričić, K. Bilić, Fumić Ksenija +6 more
20170 citations
Semantic Scholar
Importance of analyzing amino acid concentrations on tandem mass spectrometer in monitoring the treatment of tyrosinemia type 1
A. Škaričić, M. Zekušić, K. Bilić, K. Fumić +6 more
20170 citations
Semantic Scholar
Unveiling the mutational spectrum of classic galactosemia in Croatia
I. AngeloSRiviera, V. Sarnavka, J. Vuković, K. Fumić +4 more
20170 citations
Semantic Scholar
Utjecaj dijetoterapije na ishod trudnoće kod novodijagnosticirane citrulinemije tipa 1
Valentina Uroić, Nikola Mesarić, Sandra Crnko, Anna Jurković +11 more
20160 citations
Semantic Scholar
Analysis of fatty acid composition in the diagnosis and monitoring of inherited disorders
I. Delaš, D. Ramadža, V. Sarnavka, M. Delaš +1 more
20160 citations
Semantic Scholar
Primjena tandemske spektrometrije masa u dijagnostici nasljednih metaboličkih bolesti
A. Škaričić, M. Zekušić, K. Bilić, K. Fumić +6 more
20160 citations
Semantic Scholar
INFANTILNI OBLIK POMPEOVE BOLESTI (iPB): važnost rane dijagnostike
Barbara Perše, M. Solá, M. Novak, M. Cvitković +13 more
20160 citations
Semantic Scholar
Metabolički moždani udar u sindromu MELAS – prikaz bolesnika i preporuke za liječenje
Maja Ban, Danijela Petković Ramadža, V. Sarnavka, Nina Barišić +9 more
20160 citations
Semantic Scholar
Značajnost određivanja koncentracije aminokiselina metodom tandemske spektrometrije masa u dijagnostici i tijeku liječenja argininosukcinične acidurije
A. Škaričić, M. Zekušić, K. Fumić, K. Bilić +4 more
20160 citations
Semantic Scholar
[Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy].
D. Ramadža, M. Ćuk, K. Zibar, Marina Barić +9 more
2015Liječnički vjesnik0 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

I. Barić×37
Invite
I. Barić — researcher profile on SciRah
K. Fumić×29
Invite
K. Fumić — researcher profile on SciRah
D. Ramadža×13
Invite
D. Ramadža — researcher profile on SciRah
M. Ćuk×12
Invite
M. Ćuk — researcher profile on SciRah

×10

Invite

D. Begović — researcher profile on SciRah

Invite

K. Bilić — researcher profile on SciRah

D. Mardešić×9

Invite

D. Mardešić — researcher profile on SciRah

M. Zekušić×8

Invite

M. Zekušić — researcher profile on SciRah

A. Škaričić×7

Invite

A. Škaričić — researcher profile on SciRah

Danijela Petković Ramadža×6

Invite

Danijela Petković Ramadža — researcher profile on SciRah

Invite

O. Vugrek — researcher profile on SciRah

Invite

S. Mudd — researcher profile on SciRah