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Search Results - Sarnavka, V.
Search Results - Sarnavka, V.
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S‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy
by
Barić, I.
,
Ćuk, M.
,
Fumić, K.
,
Vugrek, O.
,
Allen, R. H.
,
Glenn, B.
,
Maradin, M.
,
Pažanin, L.
,
Pogribny, I.
,
Radoš, M.
,
Sarnavka, V.
,
Schulze, A.
,
Stabler, S.
,
Wagner, C.
,
Zeisel, S. H.
,
Mudd, S. H.
Published in
Journal of inherited metabolic disease
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Fumaric aciduria: Mild phenotype in a 8‐year‐old girl with novel mutations
by
Maradin, M.
,
Fumić, K.
,
Hansikova, H.
,
Tesarova, M.
,
Wenchich, L.
,
Dorner, S.
,
Sarnavka, V.
,
Zeman, J.
,
Barić, I.
Published in
Journal of inherited metabolic disease
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S-Adenosylhomocysteine Hydrolase Deficiency in a Human: A Genetic Disorder of Methionine Metabolism
by
Barić, Ivo
,
Fumić, Ksenija
,
Glenn, Byron
,
Ćuk, Mario
,
Schulze, Andreas
,
Finkelstein, James D.
,
James, S. Jill
,
Mejas̆ki-Bos̆njak, Vlatka
,
Paz̆anin, Leo
,
Pogribny, Igor P.
,
Rados̆, Marko
,
Sarnavka, Vladimir
,
Sćukanec-Spoljar, Mira
,
Allen, Robert H.
,
Stabler, Sally
,
Uzelac, Lidija
,
Vugrek, Oliver
,
Wagner, Conrad
,
Zeisel, Steven
,
Mudd, S. Harvey
,
Cantoni, Giulio L.
Published in
Proceedings of the National Academy of Sciences - PNAS
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Croatia has reached iodine sufficiency
by
KUSIC, Z
,
NOVOSEL, S. A
,
MESAROS-KANJSKI, E
,
KARNER, I
,
SMOJE, J
,
MILANOVIC, N
,
KATALENIC, M
,
JURESA, V
,
SARNAVKA, V
,
DABELIC, N
,
PUNDA, M
,
RONCEVIC, S
,
LABAR, Z
,
LUKINAC, Lj
,
NÖTHIG-HUS, D
,
STANICIC, A
,
KAIC-RAK, A
Published in
Journal of endocrinological investigation
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Management of phenylketonuria in Europe: Survey results from 19 countries
by
Blau, Nenad
,
Bélanger-Quintana, Amaya
,
Demirkol, Mübeccel
,
Feillet, François
,
Giovannini, Marcello
,
MacDonald, Anita
,
Trefz, Friedrich K.
,
Spronsen, Francjan van
Published in
Molecular genetics and metabolism
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A new case of succinyl‐CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity
by
Barić, I.
,
Sarnavka, V.
,
Fumić, K.
,
Maradin, M.
,
Begović, D.
,
Ruiter, J. P. N.
,
Wanders, R. J. A.
Published in
Journal of inherited metabolic disease
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3FC1.6 S-adenosylhomocysteine hydrolase deficiency -a natural model for study of various neurological problems in children with possible dysmethylation pathogenesis
by
Barić, I.
,
Ćuk, M.
,
Ramadža, D. Petković
,
Bilić, K.
,
Martinac, I.
,
Sarnavka, V.
,
Vugrek, O.
,
Mudd, H.S.
,
Fumić, K.
Published in
European journal of paediatric neurology
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Adrenocorticotropic hormone insensitivity associated with autonomic nervous system disorders
by
DUMIC, M
,
RADICA, A
,
SABOL, Z
,
PLAVSIC, V
,
BRKLJACIC, L
,
SARNAVKA, V
,
VUKOVIC, J
Published in
European journal of pediatrics
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P05.10 Early-onset Gaucher disease (GD) in an infant – what phenotype to expect along the neuronopathic continuum and how to treat it?
by
Ćuk, M.
,
Fumić, K.
,
Bilić, K.
,
Sidransky, E.
,
Vellodi, A.
,
Juras, K.
,
Sarnavka, V.
,
Jelinić, L.
,
Rajić, L.J.
,
Mikulić, M.
,
Padovan, R. Stern
,
Hribljan, M. Čačić
,
Matić, T.
,
Cvitković, M.
,
Galić, S.
,
Novak, M.
,
Richter, D.
,
Mičić, D.
,
Čuljat, M.
,
Barić, I.
Published in
European journal of paediatric neurology
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Immunological aspects of progeria (Hutchinson-Gilford syndrome) in a 15-month-old child
by
HARJACEK, M
,
BATINIC, D
,
SARNAVKA, V
,
UZAREVIC, B
,
MARDESIC, D
,
MARUSIC, M
Published in
European journal of pediatrics
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A 17-month-old boy with bowed legs
by
BARIC, Ivo
,
SKRABIC, Veselin
,
BEGOVIC, Davor
,
SARNAVKA, Vladimir
,
SUPERTI-FURGA, Andrea
Published in
European journal of pediatrics
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HAPLOTYPE DISTRIBUTION AND MUTATIONS AT THE PAH LOCUS IN CROATIA
by
BARIC
,
MARDESIC, D
,
GJURIC, G
,
SARNAVKA
,
GOBELSCHREINER, B
,
LICHTERKONECKI, U
,
KONECKI, DS
,
TREFZ, FK
Published in
Human genetics
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European Journal Of Pediatrics
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Adenosylhomocysteinase - Deficiency
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