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1

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

Eva Morava, Ulrike Steuerwald, Rosalba Carrozzo, Leo A.J. Kluijtmans, Frodi Joensen, René Santer, Carlo Dionisi-Vici, Ron A. Wevers

Journal:

Year:

2009

Language:

english

File:

PDF, 318 KB

english, 2009

2

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

Wortmann, Saskia B., Duran, Marinus, Anikster, Yair, Barth, Peter G., Sperl, Wolfgang, Zschocke, Johannes, Morava, Eva, Wevers, Ron A.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 255 KB

english, 2013

3

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

Morava, Eva, Zeevaert, Renate, Korsch, Eckhard, Huijben, Karin, Wopereis, Suzan, Matthijs, Gert, Keymolen, Kathelijn, Lefeber, Dirk J, De Meirleir, Linda, Wevers, Ron A

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 218 KB

english, 2007

4

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

Morava, Eva, Zeevaert, Renate, Korsch, Eckhard, Huijben, Karin, Wopereis, Suzan, Matthijs, Gert, Keymolen, Kathelijn, Lefeber, Dirk J, De Meirleir, Linda, Wevers, Ron A

Journal:

European Journal of Human Genetics

Year:

2007

File:

PDF, 59 KB

2007

5

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

Mailys Guillard, Aikaterini Dimopoulou, Björn Fischer, Eva Morava, Dirk J. Lefeber, Uwe Kornak, Ron A. Wevers

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2009

Language:

english

File:

PDF, 812 KB

english, 2009

6

Identification of Novel Translational Urinary Biomarkers for Acetaminophen-Induced Acute Liver Injury Using Proteomic Profiling in Mice

van Swelm, Rachel P. L., Laarakkers, Coby M. M., van der Kuur, Ellen C., Morava-Kozicz, Eva, Wevers, Ron A., Augustijn, Kevin D., Touw, Daan J., Sandel, Maro H., Masereeuw, Rosalinde, Russel, Frans G.

Journal:

Year:

2012

Language:

english

File:

PDF, 1.18 MB

english, 2012

7

Automated measurement of permethylated serum N-glycans by MALDI–linear ion trap mass spectrometry

Maïlys Guillard, Jolein Gloerich, Hans J.C.T. Wessels, Eva Morava, Ron A. Wevers, Dirk J. Lefeber

Journal:

Carbohydrate Research

Year:

2009

Language:

english

File:

PDF, 1.65 MB

english, 2009

8

Defective protein glycosylation in patients with cutis laxa syndrome

Morava, Eva, Wopereis, Suzan, Coucke, Paul, Gillessen-Kaesbach, Gabrielle, Voit, Thomas, Smeitink, Jan, Wevers, Ron, Grünewald, Stephanie

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 266 KB

english, 2005

9

Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Miski Mohamed, Miranda Theodore, Hedi Claahsen-van der Grinten, Antonius E. van Herwaarden, Karin Huijben, Lotte van Dongen, Dorus Kouwenberg, Dirk J. Lefeber, Ron A. Wevers, Eva Morava

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 144 KB

english, 2012

10

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay

Koene, Saskia, Kluijtmans, Leo A. J., Wevers, Ron, Mock, Donald, Pasch, Marcel, Morava, Eva

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 148 KB

english, 2008

11

High-resolution QTOF mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

van Scherpenzeel, Monique, Steenbergen, Gerry, Morava, Eva, Wevers, Ron A., Lefeber, Dirk J.

Journal:

Translational Research

Year:

2015

Language:

english

File:

PDF, 2.25 MB

english, 2015

12

Prospects & potential of biobutanol production integrated with organophilic pervaporation – A techno-economic assessment

Van Hecke, Wouter, Joossen-Meyvis, Eva, Beckers, Herman, De Wever, Heleen

Journal:

Year:

2018

Language:

english

File:

PDF, 1.42 MB

english, 2018

13

Reply to Leao-Teles et al

Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 76 KB

english, 2009

14

Prevalence of cysts in epithelial ovarian cancer

Eva Kolwijck, Charlotte Lybol, Johan Bulten, Jos H.A. Vollebergh, Ron A. Wevers, Leon F.A.G. Massuger

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2010

Language:

english

File:

PDF, 107 KB

english, 2010

15

Skabiesepidemie in einer Behindertenwerkstatt – was tun?

Johannes Mayer, Sabine Wever, Christa Lurz, Eva-Bettina Bröcker

Journal:

Year:

2000

Language:

german

File:

PDF, 111 KB

german, 2000

16

Autosomal recessive cutis laxa syndrome revisited

Wevers, Ron A, Morava, Éva, Guillard, Maïlys, Lefeber, Dirk J

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 353 KB

english, 2009

17

Normal glycosylation screening does not rule out SRD5A3-CDG

Mohamed, Miski, Cantagrel, Vincent, Al-Gazali, Lihadh, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 75 KB

english, 2011

18

Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

Gerben Truin, Mailys Guillard, Dirk J. Lefeber, Jolanta Sykut-Cegielska, Maciej Adamowicz, Esther Hoppenreijs, Rob C.A. Sengers, Ron A. Wevers, Eva Morava

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 289 KB

english, 2008

19

CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans

Ziad Albahri, Eliška Marklová, Petr Dědek, Helena Hojdíková, Zdeněk Fiedler, Dirk Lefeber, Ron A Wevers, Eva Morava, Suzan Wopereis

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 67 KB

english, 2006

20

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

Maïlys Guillard, Eva Morava, Jorg de Ruijter, Tony Roscioli, Johann Penzien, Lambert van den Heuvel, Michel A. Willemsen, Arjan de Brouwer, Olaf A. Bodamer, Ron A. Wevers, Dirk J. Lefeber

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 291 KB

english, 2011

21

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics

Suzan Wopereis, Éva Morava, Stephanie Grünewald, Philippa B. Mills, Bryan G. Winchester, Peter Clayton, Paul Coucke, Karin M.L.C. Huijben, Ron A. Wevers

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2005

Language:

english

File:

PDF, 164 KB

english, 2005

22

Cerebral lipid accumulation in Chanarin–Dorfman Syndrome

Huigen, Marleen C.D.G., van der Graaf, Marinette, Morava, Eva, Dassel, A. Carin M., van Steensel, Maurice A.M., Seyger, Marieke M.B., Wevers, Ron A., Willemsen, Michèl A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 619 KB

english, 2015

23

Quorum sensing and butanediol fermentation affect colonization and spoilage of carrot slices by Serratia plymuthica

Eva Wevers, Pieter Moons, Rob Van Houdt, Ine Lurquin, Abram Aertsen, Chris W. Michiels

Journal:

International Journal of Food Microbiology

Year:

2009

Language:

english

File:

PDF, 408 KB

english, 2009

24

Nodule numbers are governed by interaction between CLE peptides and cytokinin signaling

Virginie Mortier, Eva De Wever, Marnik Vuylsteke, Marcelle Holsters, Sofie Goormachtig

Journal:

The Plant Journal

Year:

2012

Language:

english

File:

PDF, 571 KB

english, 2012

25

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

Beate Albrecht, Arjan P. de Brouwer, Dirk J. Lefeber, Kirsten Cremer, Ingrid Hausser, Nick Rossen, Saskia B. Wortmann, Ron A. Wevers, Uwe Kornak, Eva Morava

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 101 KB

english, 2010

26

Effects of the Statutory Health Insurance Modernization Act on the supply and expenditure situation in cases of assisted reproductive technologies in Germany

Eva Susanne Dietrich, Wenke Wevers

Journal:

Fertility and Sterility

Year:

2010

Language:

english

File:

PDF, 79 KB

english, 2010

27

Metabolic cutis laxa syndromes

Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, Uwe Kornak, Ron A. Wevers, Eva Morava

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 279 KB

english, 2011

28

The 3-methylglutaconic acidurias: what’s new?

Saskia B. Wortmann, Leo A. Kluijtmans, Udo F. H. Engelke, Ron A. Wevers, Eva Morava

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 336 KB

english, 2012

29

Intravenous dexamethasone-cyclophosphamide pulse therapy in comparison with oral methylprednisolone-azathioprine therapy in patients with pemphigus: Results of a multicenter prospectively randomized study : Intravenöse Dexamethason-Cyclophosphamid-Pulstherapie im Vergleich zu einer oralen Methylprednisolon-Azathioprin-Therapie bei Patienten mit Pemphigus-Erkrankungen: Ergebnisse einer multizentrischen, prospektiven, randomisierten Studie

Ellen Rose, Sabine Wever, Detlef Zillikens, Ruthild Linse, Uwe-Frithjof Haustein, Eva-Bettina Bröcker

Journal:

JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

30

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

Van Asbeck, Ellyze, Wolthuis, David F.G.J., Mohamed, Miski, Wevers, Ron A., Korenke, Cristoph G., Gardeitchik, Thatjana, Morava, Eva

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 524 KB

english, 2014

31

N-acetyl resonances in in vivo and in vitro NMR spectroscopy of cystic ovarian tumors

Eva Kolwijck, Udo F. Engelke, Marinette van der Graaf, Arend Heerschap, Henk J. Blom, M'Hamed Hadfoune, Wim A. Buurman, Leon F. Massuger, Ron A. Wevers

Journal:

NMR in Biomedicine

Year:

2009

Language:

english

File:

PDF, 242 KB

english, 2009

32

Treatment of 16 patients with bullous pemphigoid with oral tetracycline and niacinamide and topical clobetasol

Barbara Hornschuh, Henning Hamm, Sabine Wever, Takashi Hashimoto, Ulf Schröder, Eva-B. Bröcker, Detlef Zillikens

Journal:

Journal of the American Academy of Dermatology

Year:

1997

Language:

english

File:

PDF, 1.37 MB

english, 1997

33

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

Dorus Kouwenberg, Thatjana Gardeitchik, Ron A Wevers, Johannes Häberle, Eva Morava

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

34

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

Stelten, Bianca M.L., Huidekoper, Hidde H., van de Warrenburg, Bart P.C., Brilstra, Eva H., Hollak, Carla E.M., Haak, Harm.R., Kluijtmans, Leo A.J., Wevers, Ron A., Verrips, Aad

Journal:

Year:

2018

Language:

english

File:

PDF, 476 KB

english, 2018

35

Cutis laxa and fatal pulmonary hypertension

Brunetti-Pierri, Nicola, Piccolo, Pasquale, Morava, Eva, Wevers, Ron A., McGuirk, Megan, Johnson, Yvette R., Urban, Zsolt, Dishop, Megan K., Potocki, Lorraine

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 297 KB

english, 2011

36

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

Mailys Guillard, Yoshinao Wada, Hana Hansikova, Isao Yuasa, Katerina Vesela, Nina Ondruskova, Machiko Kadoya, Alice Janssen, Lambertus P. W. J. Van den Heuvel, Eva Morava, Jiri Zeman, Ron A. Wevers, D

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 272 KB

english, 2011

37

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism

Udo F. H. Engelke, Berry Kremer, Leo A. J. Kluijtmans, Marinette van der Graaf, Eva Morava, Ference J. Loupatty, Ronald J. A. Wanders, Detlef Moskau, Sandra Loss, Erik van den Bergh, Ron A. Wevers

Journal:

NMR in Biomedicine

Year:

2006

Language:

english

File:

PDF, 211 KB

english, 2006

38

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia

Ven, Steffi, Gardeitchik, Thatjana, Kouwenberg, Dorus, Kluijtmans, Leo, Wevers, Ron, Morava, Eva

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 217 KB

english, 2014

39

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

Wolthuis, David F.G.J., van Asbeck, Ellyze, Mohamed, Miski, Gardeitchik, Thatjana, Lim-Melia, Elizabeth R., Wevers, Ron A., Morava, Eva

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 665 KB

english, 2014

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