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1

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Stephan Kemp, Aurora Pujol, Hans R. Waterham, Björn M. van Geel, Corinne D. Boehm, Gerald V. Raymond, Garry R. Cutting, Ronald J.A. Wanders, Hugo W. Moser

Journal:

Year:

2001

Language:

english

File:

PDF, 384 KB

english, 2001

2

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk IJlst, Ronald JA Wanders

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

3

Functions and biosynthesis of plasmalogens in health and disease

Pedro Brites, Hans R Waterham, Ronald J.A Wanders

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

2004

Language:

english

File:

PDF, 476 KB

english, 2004

4

Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1

Alison M. Motley, Pedro Brites, Lisya Gerez, Eveline Hogenhout, Janet Haasjes, Rob Benne, Henk F. Tabak, Ronald J.A. Wanders, Hans R. Waterham

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 563 KB

english, 2002

5

Infevers: An evolving mutation database for auto-inflammatory syndromes

Isabelle Touitou, Suzanne Lesage, Michael McDermott, Laurence Cuisset, Hal Hoffman, Catherine Dode, Nitza Shoham, Ebun Aganna, Jean-Pierre Hugot, Carol Wise, Hans Waterham, Denis Pugnere, Jacques Dema

Journal:

Year:

2004

Language:

english

File:

PDF, 269 KB

english, 2004

6

The neurology of rhizomelic chondrodysplasia punctata

Bams-Mengerink, Annemieke M, Koelman, Johannes HTM, Waterham, Hans, Barth, Peter G, Poll-The, Bwee

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 882 KB

english, 2013

7

Genetics and molecular basis of human peroxisome biogenesis disorders

Hans R. Waterham, Merel S. Ebberink

Journal:

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

Year:

2012

Language:

english

File:

PDF, 720 KB

english, 2012

8

Peroxisome biogenesis in Hansenula polymorpha: different mutations in genes, essential for peroxisome biogenesis, cause different peroxisomal mutant phenotypes

Vladimir I. Titorenko, Hans R. Waterham, Peter Haima, Wim Harder, Marten Veenhuis

Journal:

FEMS Microbiology Letters

Year:

1992

Language:

english

File:

PDF, 748 KB

english, 1992

9

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

Berendse, Kevin, Ebberink, Merel S, IJlst, Lodewijk, Poll-The, Bwee, Wanders, Ronald J A, Waterham, Hans R

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 360 KB

english, 2013

10

Integration of epidemiologic, pharmacologic, genetic and gut microbiome data in a drug–metabolite atlas

Liu, Jun, Lahousse, Lies, Nivard, Michel G., Bot, Mariska, Chen, Lianmin, van Klinken, Jan Bert, Thesing, Carisha S., Beekman, Marian, van den Akker, Erik Ben, Slieker, Roderick C., Waterham, Eveline,

Journal:

Nature Medicine

Year:

2020

File:

PDF, 9.99 MB

2020

11

Mutational spectrum of Smith-Lemli-Opitz syndrome

Waterham, Hans R., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 330 KB

english, 2012

12

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis

Scalais, Emmanuel, Bottu, Jean, Wanders, Ronald J. A., Ferdinandusse, Sacha, Waterham, Hans R., De Meirleir, Linda

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 91 KB

english, 2015

13

Graphical user interfaces and visually disabled users

Poll, L.H.D., Waterham, R.P.

Journal:

IEEE Transactions on Rehabilitation Engineering

Year:

1995

Language:

english

File:

PDF, 584 KB

english, 1995

14

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek, Clara D. M., Wortmann, Saskia B., Tarailo-Graovac, Maja, Langeveld, Mirjam, Ferreira, Carlos R., van de Kamp, Jiddeke M., Hollak, Carla E., Wasserman, Wyeth W., Waterham, Hans R., Wever

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 898 KB

english, 2018

15

Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

van Maldegem, Bianca T., Duran, Marinus, Wanders, Ronald J. A., Niezen-Koning, Klary E., Hogeveen, Marije, Ijlst, Lodewijk, Waterham, Hans R., Wijburg, Frits A.

Journal:

JAMA The Journal of the American Medical Association

Year:

2006

Language:

english

File:

PDF, 167 KB

english, 2006

16

Biochemistry of Mammalian Peroxisomes Revisited

Wanders, Ronald J.A., Waterham, Hans R.

Journal:

Annual Review of Biochemistry

Year:

2006

Language:

english

File:

PDF, 618 KB

english, 2006

17

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Ferdinandusse, Sacha, Waterham, Hans R, Heales, Simon JR, Brown, Garry K, Hargreaves, Iain P, Taanman, Jan-Willem, Gunny, Roxana, Abulhoul, Lara, Wanders, Ronald JA, Clayton, Peter T, Leonard, James V

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 698 KB

english, 2013

18

A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing

Sollie, Annet, Sijmons, Rolf H., Lindhout, Dick, van der Ploeg, Ans T., Rubio Gozalbo, M. Estela, Smit, G. Peter A., Verheijen, Frans, Waterham, Hans R., van Weely, Sonja, Wijburg, Frits A., Wijburg,

Journal:

Year:

2013

Language:

english

File:

PDF, 331 KB

english, 2013

19

Clinical and biochemical characterization of four patients with mutations in ECHS1

Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R.,

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

20

Smith-Lemli-Opitz Syndrome and the DHCR7 Gene

P. E. Jira, H. R. Waterham, R. J. A. Wanders, J. A. M. Smeitink, R. C. A. Sengers, R. A. Wevers

Journal:

Annals of Human Genetics

Year:

2003

Language:

english

File:

PDF, 174 KB

english, 2003

21

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 gene

Ebberink, M. S., Koster, J., Visser, G., Spronsen, F. v., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A., Waterham, H. R.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 575 KB

english, 2012

22

Autosomal recessive cerebellar ataxia caused by mutations in thePEX2gene

Caroline Sevin, Sacha Ferdinandusse, Hans R Waterham, Ronald J Wanders, Patrick Aubourg

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 341 KB

english, 2011

23

Subcellular location of the enzymes of purine breakdown in the yeast Candida famata grown on uric acid

Peter J. Large, Hans R. Waterham, Marten Veenhuis

Journal:

FEMS Microbiology Letters

Year:

1990

Language:

english

File:

PDF, 392 KB

english, 1990

24

Identification of a cDNA encoding an isoform of human CTP synthetase

André B.P van Kuilenburg, Rutger Meinsma, Peter Vreken, Hans R Waterham, Albert H van Gennip

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

2000

Language:

english

File:

PDF, 454 KB

english, 2000

25

Reduced Muscle Strength in Ether Lipid-Deficient Mice Is Accompanied by Altered Development and Function of the Neuromuscular Junction

Dorninger, Fabian, Herbst, Ruth, Kravic, Bojana, Camurdanoglu, Bahar Z., Macinkovic, Igor, Zeitler, Gerhard, Forss-Petter, Sonja, Strack, Siegfried, Khan, Muzamil Majid, Waterham, Hans R., Rudolf, Rüd

Journal:

Journal of Neurochemistry

Year:

2017

Language:

english

File:

PDF, 1.01 MB

english, 2017

26

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations

Grétel Oudesluijs, Marleen E.H. Simon, Rianne H.J. Burggraaf, Hans R. Waterham, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

27

A role for geranylgeranylation in interleukin-1β secretion

Saskia H. L. Mandey, Loes M. Kuijk, Joost Frenkel, Hans R. Waterham

Journal:

Arthritis & Rheumatism

Year:

2006

Language:

english

File:

PDF, 81 KB

english, 2006

28

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome

P. E. JIRA, R. J. A. WANDERS, J. A. M. SMEITINK, J. DE JONG, R. A. WEVERS, W. OOSTHEIM, J. H. A. M. TUERLINGS, R. C. M. HENNEKAM, R. C. A. SENGERS, H. R. WATERHAM

Journal:

Annals of Human Genetics

Year:

2001

Language:

english

File:

PDF, 216 KB

english, 2001

29

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia

Anastasia Konstantinidou, Charalampos Karadimas, Hans R. Waterham, Andrea Superti-Furga, Petros Kaminopetros, Maria Grigoriadou, Haris Kokotas, George Agrogiannis, Aglaia Giannoulia-Karantana, Efstrat

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 340 KB

english, 2008

30

Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up

Rezan Topaloğlu, Nuray Aktay Ayaz, Hans R. Waterham, Aysel Yüce, Fatma Gumruk, Özden Sanal

Journal:

Clinical Rheumatology

Year:

2008

Language:

english

File:

PDF, 83 KB

english, 2008

31

MTO04 Leigh-like encephalomyopathy and mild methylmalonic aciduria: a new MtDNA depletion syndrome

B.T. Poll-The, L. Wagener-Schimmel, N. Abeling, H. Waterham, R.J.A. Wanders, M. Duran

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

32

Mitochondrial Trifunctional Protein Deficiency With Recurrent Rhabdomyolysis

Oded Scheuerman, Ronald J.A. Wanders, Hans R. Waterham, Gal Dubnov-Raz, Ben-Zion Garty

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 73 KB

english, 2009

33

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome

Hans R Waterham, Ronald J.A Wanders

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

2000

Language:

english

File:

PDF, 345 KB

english, 2000

34

The Hansenula polymorpha PER1 gene is essential for peroxisome biogenesis and encodes a peroxisomal matrix protein with both carboxy- and amino-terminal targeting signals

Waterham, H. R.

Journal:

The Journal of Cell Biology

Year:

1994

Language:

english

File:

PDF, 2.77 MB

english, 1994

35

Metabolite transport across the peroxisomal membrane

Visser, Wouter F., van Roermund, Carlo W. T., Ijlst, Lodewijk, Waterham, Hans R., Wanders, Ronald J. A.

Journal:

Biochemical Journal

Year:

2007

Language:

english

File:

PDF, 355 KB

english, 2007

36

Peroxisome biogenesis in the yeast Hansenula polymorpha is controlled by a complex set of interacting gene products.

Titorenko, V. I., Waterham, H. R., Cregg, J. M., Harder, W., Veenhuis, M.

Journal:

Proceedings of the National Academy of Sciences

Year:

1993

Language:

english

File:

PDF, 2.29 MB

english, 1993

37

The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey

Gronemeyer, Thomas, Wiese, Sebastian, Ofman, Rob, Bunse, Christian, Pawlas, Magdalena, Hayen, Heiko, Eisenacher, Martin, Stephan, Christian, Meyer, Helmut E., Waterham, Hans R., Erdmann, Ralf, Wanders

Journal:

Year:

2013

Language:

english

File:

PDF, 1.72 MB

english, 2013

38

Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting

Lismont, Celien, Koster, Janet, Provost, Sarah, Baes, Myriam, Van Veldhoven, Paul P., Waterham, Hans R., Fransen, Marc

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

2019

Language:

english

File:

PDF, 9.96 MB

english, 2019

39

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose

Carrier, David J., van Roermund, Carlo W. T., Schaedler, Theresia A., Rong, Hong Lin, IJlst, Lodewijk, Wanders, Ronald J. A., Baldwin, Stephen A., Waterham, Hans R., Theodoulou, Frederica L., Baker, A

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 1.90 MB

english, 2019

40

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene

Emma L. Williams, Cecile Acquaviva, Antonio Amoroso, Francoise Chevalier, Marion Coulter-Mackie, Carla G. Monico, Daniela Giachino, Tricia Owen, Angela Robbiano, Eduardo Salido, Hans Waterham, Gill Ru

Journal:

Year:

2009

Language:

english

File:

PDF, 243 KB

english, 2009

41

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

B. T. Poll-The, J. Frenkel, S. M. Houten, W. Kuis, M. Duran, T. J. de Koning, L. Dorland, M. M. J. de Barse, G. J. Romeijn, R. J. A. Wanders, H. R. Waterham

Journal:

Journal of Inherited Metabolic Disease

Year:

2000

Language:

english

File:

PDF, 49 KB

english, 2000

42

Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts

Sietske Hogenboom, Ronald J.A Wanders, Hans R Waterham

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 353 KB

english, 2003

43

The Hansenula polymorpha PER8 Gene Encodes a Novel Peroxisomal Integral Membrane Protein Involved in Proliferation

Xuqiu Tan, Hans R. Waterham, Marten Veenhuis and James M. Cregg

Journal:

The Journal of Cell Biology

Year:

1995

Language:

english

File:

PDF, 2.51 MB

english, 1995

44

Barley has two peroxisomal ABC transporters with multiple functions in -oxidation

Mendiondo, G. M., Medhurst, A., van Roermund, C. W., Zhang, X., Devonshire, J., Scholefield, D., Fernandez, J., Axcell, B., Ramsay, L., Waterham, H. R., Waugh, R., Theodoulou, F. L., Holdsworth, M. J.

Journal:

Journal of Experimental Botany

Year:

2014

Language:

english

File:

PDF, 5.23 MB

english, 2014

45

The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)

El Hajj, H. I., Vluggens, A., Andreoletti, P., Ragot, K., Mandard, S., Kersten, S., Waterham, H. R., Lizard, G., Wanders, R. J. A., Reddy, J. K., Cherkaoui-Malki, Mustapha

Journal:

Year:

2012

Language:

english

File:

PDF, 542 KB

english, 2012

46

Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder

Gootjes, Jeannette, Elpeleg, Orly, Eyskens, François, Mandel, Hanna, Mitanchez, Delphine, Shimozawa, Noboyuki, Suzuki, Yasuyuki, Waterham, Hans R, Wanders, Ronald J A

Journal:

Pediatric Research

Year:

2004

Language:

english

File:

PDF, 150 KB

english, 2004

47

Development and preliminary evaluation of two speech communication aids

Deliege, R. J. H., Speth-Lemmens, I. M. A. F., Waterham, R. P.

Journal:

Journal of Medical Engineering & Technology

Year:

1989

Language:

english

File:

PDF, 740 KB

english, 1989

48

HMG-CoA reductase inhibition induces IL-1 release through Rac1/PI3K/PKB-dependent caspase-1 activation

Kuijk, L. M., Beekman, J. M., Koster, J., Waterham, H. R., Frenkel, J., Coffer, P. J.

Journal:

Year:

2008

Language:

english

File:

PDF, 1.39 MB

english, 2008

49

MOLECULAR BASIS OF INHERITED DISORDERS OF ISOPRENOID BIOSYNTHESIS

Waterham, H. R., Houten, S. M., Romeijn, G. J., Koster, J., Oostheim, W., Frenkel, J., Kuis, W., Poll-The, B. T., Wanders, R. J. A.

Journal:

Biochemical Society Transactions

Year:

2000

Language:

english

File:

PDF, 140 KB

english, 2000

50

Alkyl-Glycerol Rescues Plasmalogen Levels and Pathology of Ether-Phospholipid Deficient Mice

Brites, Pedro, Ferreira, Ana Sofia, Ferreira da Silva, Tiago, Sousa, Vera F., Malheiro, Ana R., Duran, Marinus, Waterham, Hans R., Baes, Myriam, Wanders, Ronald J. A., Oresic, Matej

Journal:

Year:

2011

Language:

english

File:

PDF, 3.53 MB

english, 2011

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