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T

Tomáš Honzík

Charles University and General University Hospital in Prague
H指数:35
被引数:4,958

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Insights Into the Pathological Glycosylation Associated With COG6-CDG

COG6-CDG相关病理糖基化的研究进展

Human Mutation
IF3.7
2025-11-300
OAAI
Zuzana Pakanová; Maroš Krchňák; Marek Nemčovič; Rebeka Kodríková; Nina Ondrušková; Hana Štufková; Mária Giertlová; Katarína Okáľová; Paula Stretavská; Slavomíra Martineková; Renáta Zemjarová Mezenská; Michaela Urminská; Martina Škopková; Andrea Andrésová; Miroslava Lysinová; Lenka Belujská; Anna Šalingová; Gábor Beke; Lucia Račková; Tomáš Honzík; Hana Hansíková; Peter Baráth
Corrigendum to “Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]”

勘误：“Phosphomannomutase 2-congenital disorder of glycosylation的发病率和患病率：过去、现在和未来 [Molecular Genetics and Metabolism 146 (2025) 109188]”

Molecular Genetics and Metabolism
IF3.5
2025-10-140
OAAI
Andrew C. Edmondson; Tomas Honzik; Christina Lam; Katrin Ounap; Peter McWilliams; Eva Morava
A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency

在罗姆人群中普遍存在的MOCS2变异与一种新型的轻度钼辅因子缺乏症相关。

European Journal of Pediatrics
IF2.6
2025-07-250
OA
Sung Kweon Cho; Guenter Schwarz; Velibor Tasic; Michaela Křížková; Jakub Krijt; Juliane Roeper; Tomáš Honzík; Ivan Šebesta; Viktor Kožich; Jana Šaligová; Katerina Pavelcova; Jana Masinova; Cheryl A. Winkler; Blanka Stiburkova
A novel cause of type 1 Von Willebrand Disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants

1型血管性血友病的一种新型病因：由于双等位基因MADD变异导致Weibel-Palade小体的外排障碍

Blood
IF23.1
2025-07-170
PREAI
Sophie Hordijk; Stijn A. Groten; Petra E. Bürgisser; Sebastiaan N. J. Laan; Georg Christoph Korenke; Tomáš Honzík; Diane Beysen; Frank W. G. Leebeek; Paul A. Skehel; Maartje van den Biggelaar; Tom Carter; Ruben Bierings
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

SLC35A2-CDG中糖鞘脂合成受损，且可通过添加半乳糖得到改善。

Cellular and Molecular Life Sciences
IF6.2
2025-06-270
OAAI
Andrea Jáñez Pedrayes; Sam De Craemer; Jakub Idkowiak; Dries Verdegem; Christian Thiel; Rita Barone; Mercedes Serrano; Tomáš Honzík; Eva Morava; Pieter Vermeersch; François Foulquier; Willy Morelle; Johannes V. Swinnen; Daisy Rymen; David Cassiman; Bart Ghesquière; Peter Witters
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
HUMAN MUTATION
IF3.7
2024-10-030
OA
Pajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023)
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-08-011
OAAI
Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-07-0111
OAAI
Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
ANNALS OF NEUROLOGY
IF7.7
2022-06-167
PRE
Huebschmann, Oya Kuseyri; Julia-Palacios, Natalia Alexandra; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhanek, Jan; Pearson, Toni S.; Kuster, Alice; Cortes-Saladelafont, Elisenda; Ibanez, Salvador; Garcia-Jimenez, Maria Concepcion; Honzik, Tomas; Santer, Rene; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Georg F.; Opladen, Thomas; Garcia-Cazorla, Angeles
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
NATURE COMMUNICATIONS
IF15.7
2021-09-2025
OAAI
Huebschmann, Oya Kuseyri; Horvath, Gabriella; Cortes-Saladelafont, Elisenda; Yildiz, Yilmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios, I; Kulhanek, Jan; Kurian, Manju A.; Lopez-Laso, Eduardo; Oppeboen, Mari; Kilavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Buergi, Sabine; Porta, Francesco; Honzik, Tomas; Santer, Rene; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Huebschmann, Daniel; Garbade, Sven F.; Garcia-Cazorla, Angeles; Opladen, Thomas
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study

新生儿筛查与早期饮食管理对长链3-羟酰CoA脱氢酶缺乏症及中链酰CoA脱氢酶缺乏症患者临床结局的影响——一项全国性回顾性研究

NUTRIENTS
IF5
2021-08-244
OAAI
Rucklova, Kristina; Hruba, Eva; Pavlikova, Marketa; Hanak, Petr; Farolfi, Martina; Chrastina, Petr; Vlaskova, Hana; Kousal, Bohdan; Smolka, Vratislav; Foltenova, Hana; Adam, Tomas; Friedecky, David; Jesina, Pavel; Zeman, Jiri; Kozich, Viktor; Honzik, Tomas
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

是否应该对磷酸变位酶2-CDG (PMM2-CDG) 患者进行肾上腺功能不全筛查？

MOLECULAR GENETICS AND METABOLISM
IF3.5
2021-08-017
OAAI
Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Serrano, Mercedes; Barone, Rita; De Lonlay, Pascale; Schiff, Manuel; Witters, Peter; Lam, Christina; Patterson, Marc; Janssen, Mirian C. H.; Correia, Joana; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Plotkin, Horacio; Morava, Eva; Sarafoglou, Kyriakie

研究方向

暂未获取到该数据
J
J Zeman
H 指数:42论文数:449被引数:7,511
H
Hana Hansíková
H 指数:35论文数:210被引数:3,797
M
Markéta Tesařová
H 指数:29论文数:139被引数:2,576
É
Éva Morava
H 指数:70论文数:581被引数:1.6万
M
Martin Magner
H 指数:23论文数:117被引数:1,573
P
Pavel Ješina
H 指数:29论文数:97被引数:2,115
J
Jolanta Sykut‐Cegielska
H 指数:38论文数:137被引数:4,688
V
Viktor Stránecký
H 指数:30论文数:187被引数:3,424
P
Peter Witters
H 指数:33论文数:128被引数:3,303
N
Nina Ondrušková
H 指数:12论文数:27被引数:639