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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Published in Orphanet journal of rare diseases (26.05.2020)
Published in Orphanet journal of rare diseases (26.05.2020)
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Journal Article
Compositional changes in garnet: trace element transfer during eclogite-facies metamorphism
Kulhánek, Jan, Faryad, Shah Wali
Published in Contributions to mineralogy and petrology (01.10.2023)
Published in Contributions to mineralogy and petrology (01.10.2023)
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Journal Article
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Published in Orphanet journal of rare diseases (05.08.2020)
Published in Orphanet journal of rare diseases (05.08.2020)
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Journal Article
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Hübschmann, Oya Kuseyri, Juliá‐Palacios, Natalia Alexandra, Olivella, Mireia, Guder, Philipp, Zafeiriou, Dimitrios I., Horvath, Gabriella, Kulhánek, Jan, Pearson, Toni S., Kuster, Alice, Cortès‐Saladelafont, Elisenda, Ibáñez, Salvador, García‐Jiménez, Maria Concepción, Honzík, Tomáš, Santer, René, Jeltsch, Kathrin, Garbade, Sven F., Hoffmann, Georg F., Opladen, Thomas, García‐Cazorla, Ángeles
Published in Annals of neurology (01.08.2022)
Published in Annals of neurology (01.08.2022)
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Journal Article
POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene
Kulhánek, Jan, Brožová, Klára, Hansíková, Hana, Vondráčková, Alžběta, Stránecký, Viktor, Šenkyřík, Jan, Kmoch, Stanislav, Zeman, Jiří, Honzík, Tomáš, Tesařová, Markéta
Published in Neurologia i neurochirurgia polska (01.01.2019)
Published in Neurologia i neurochirurgia polska (01.01.2019)
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Journal Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., García-Cazorla, Angeles, Opladen, Thomas
Published in Nature communications (20.09.2021)
Published in Nature communications (20.09.2021)
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Journal Article
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Kuseyri Hübschmann, Oya, Mohr, Alexander, Friedman, Jennifer, Manti, Filippo, Horvath, Gabriella, Cortès‐Saladelafont, Elisenda, Mercimek‐Andrews, Saadet, Yildiz, Yilmaz, Pons, Roser, Kulhánek, Jan, Oppebøen, Mari, Koht, Jeanette Aimee, Podzamczer‐Valls, Inés, Domingo‐Jimenez, Rosario, Ibáñez, Salvador, Alcoverro‐Fortuny, Oscar, Gómez‐Alemany, Teresa, Castro, Pedro, Alfonsi, Chiara, Zafeiriou, Dimitrios I., López‐Laso, Eduardo, Guder, Philipp, Santer, René, Honzík, Tomáš, Hoffmann, Georg F., Garbade, Sven F., Sivri, H. Serap, Leuzzi, Vincenzo, Jeltsch, Kathrin, García‐Cazorla, Angeles, Opladen, Thomas, Harting, Inga
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
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Journal Article
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Keller, Mareike, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Manti, Filippo, Julia Palacios, Natalia Alexandra, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet‐Na, Zafeiriou, Dimitrios I., López‐Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano‐Lomelin, Jesus, Garbade, Sven F., Opladen, Thomas, Goez, Helly, Burlina, Alberto, Cortès‐Saladelafont, Elisenda, Fernández Ramos, Joaquín Alejandro, García‐Cazorla, Angeles, Hoffmann, Georg F., Kiat Hong, Stacey Tay, Honzík, Tomáš, Kavecan, Ivana, Kurian, Manju A., Leuzzi, Vincenzo, Lücke, Thomas, Manzoni, Francesca, Mastrangelo, Mario, Mercimek‐Andrews, Saadet, Mir, Pablo, Oppebøen, Mari, Pearson, Toni S., Sivri, H. Serap, Steel, Dora, Stevanović, Galina, Fung, Cheuk‐Wing
Published in Journal of inherited metabolic disease (01.11.2021)
Published in Journal of inherited metabolic disease (01.11.2021)
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Journal Article
Uptake of technetium 99m HDP in cardiac amyloidosis
Kulhanek, Jan, Movahed, Assad
Published in The International Journal of Cardiovascular Imaging (01.06.2003)
Published in The International Journal of Cardiovascular Imaging (01.06.2003)
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Journal Article
Leber Hereditary Optic Neuropathy
Kolářová, Hana, Honzík, Tomáš, Ďuďáková, Ľubica, Kousal, Bohdan, Kulhánek, Jan, Diblík, Pavel, Tesařová, Markéta, Havránková, Petra, Forgáč, Martin, Zeman, Jiří, Lišková, Petra
Published in Česká a Slovenská neurologie a neurochirurgie (30.09.2017)
Published in Česká a Slovenská neurologie a neurochirurgie (30.09.2017)
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Journal Article
Peripapillary microcirculation in Leber hereditary optic neuropathy
Kousal, Bohdan, Kolarova, Hana, Meliska, Martin, Bydzovsky, Jan, Diblik, Pavel, Kulhanek, Jan, Votruba, Marcela, Honzik, Tomas, Liskova, Petra
Published in Acta ophthalmologica (Oxford, England) (01.02.2019)
Published in Acta ophthalmologica (Oxford, England) (01.02.2019)
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Journal Article
Adenosine myocardial perfusion single photon emission computed tomographic stress testing 24–72 h after uncomplicated myocardial infarction
Kulhanek, Jan, Sorrell, Vincent L., Ershadi, Reza E., Cabarrus, Brian R., Short, Douglas B., Movahed, Assad
Published in The International Journal of Cardiovascular Imaging (01.08.2002)
Published in The International Journal of Cardiovascular Imaging (01.08.2002)
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Journal Article