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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

Principles of Nutrigenetics and Nutrigenomics || Phytanic Acid Metabolism in Health and Disease

Wanders, Ronald J.A.

Year:

2020

Language:

english

File:

PDF, 139 KB

english, 2020

4

Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

Sabine Illsinger, Thomas Lücke, Michael Peter, Jos P.N. Ruiter, Ronald J.A. Wanders, Marcus Deschauer, Ingrid Handig, Wim Wuyts, Anibh M. Das

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 61 KB

english, 2008

5

Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice

Megan H. Keane, Henk Overmars, Thomas M. Wikander, Sacha Ferdinandusse, Marinus Duran, Ronald J. A. Wanders, Phyllis L. Faust

Journal:

Year:

2007

Language:

english

File:

PDF, 3.17 MB

english, 2007

6

Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting

Jlenia Monfregola, Armando Cevenini, Antonio Terracciano, Naomi van Vlies, Salvatore Arbucci, Ronald J.A. Wanders, Michele D'Urso, Frédéric M. Vaz, Matilde Valeria Ursini

Journal:

Journal of Cellular Physiology

Year:

2005

Language:

english

File:

PDF, 821 KB

english, 2005

7

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

8

A survey of the high energy physics program at Brookhaven National Laboratory

H. Hahn, R.Ronald Rau, P. Wanderer

Journal:

Physics Reports

Year:

1977

Language:

english

File:

PDF, 5.10 MB

english, 1977

9

10.1038/71375

Wirtz, Karel W. A., Dansen, Tobias B., Wanders, Ronald J. A., Pap, Eward H. W.

Journal:

Nature Cell Biology

Year:

2000

Language:

english

File:

PDF, 517 KB

english, 2000

10

Peroxisomal Disorders: Clinical, Biochemical, and Molecular Aspects

Ronald J.A. Wanders

Journal:

Neurochemical Research

Year:

1999

Language:

english

File:

PDF, 2.26 MB

english, 1999

11

Modern theories of metabolic control and their applications

Hans V. Westerhoff, Albert K. Groen, Ronald J. A. Wanders

Journal:

Bioscience Reports

Year:

1984

Language:

english

File:

PDF, 1.21 MB

english, 1984

12

Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

Peter Vreken, Fredoen Valianpour, Leo G. Nijtmans, Les A. Grivell, Barbara Plecko, Ronald J.A. Wanders, Peter G. Barth

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 117 KB

english, 2000

13

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

14

A role for the peroxisomal 3-ketoacyl-CoA thiolase B enzyme in the control of PPARα-mediated upregulation of SREBP-2 target genes in the liver

Marco Fidaleo, Ségolène Arnauld, Marie-Claude Clémencet, Grégory Chevillard, Marie-Charlotte Royer, Melina De Bruycker, Ronald J.A. Wanders, Anne Athias, Joseph Gresti, Pierre Clouet, Pascal Degrace,

Journal:

Year:

2011

Language:

english

File:

PDF, 1.44 MB

english, 2011

15

Novel missense mutations in the first Chinese patient with very-long-chain acyl-CoA dehydrogenase deficiency

L.K. Law, N.L.S. Tang, Matthew K.H. Tong, Tony W.L. Mak, Ronald J.A. Wanders, C.W.K. Lam

Journal:

Clinica Chimica Acta

Year:

2007

Language:

english

File:

PDF, 258 KB

english, 2007

16

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

Ference J. Loupatty, Annemarie van der Steen, Lodewijk IJlst, Jos P.N. Ruiter, Rob Ofman, Matthias R. Baumgartner, Diana Ballhausen, Seiji Yamaguchi, Marinus Duran, Ronald J.A. Wanders

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 189 KB

english, 2006

17

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

18

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

19

Phospholipid abnormalities in children with Barth syndrome

Michael Schlame, Richard I Kelley, Annette Feigenbaum, Jeffrey A Towbin, Paul M Heerdt, Thomas Schieble, Ronald J.A Wanders, Salvatore DiMauro, Thomas J.J Blanck

Journal:

Journal of the American College of Cardiology

Year:

2003

Language:

english

File:

PDF, 105 KB

english, 2003

20

Effects of Insulin on Ketogenesis Following Fasting in Lean and Obese Men

Maarten R. Soeters, Hans P. Sauerwein, Linda Faas, Martijn Smeenge, Marinus Duran, Ronald J. Wanders, An F. Ruiter, Mariëtte T. Ackermans, Eric Fliers, Sander M. Houten, Mireille J. Serlie

Journal:

Year:

2009

Language:

english

File:

PDF, 172 KB

english, 2009

21

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Catharina M L Touw, G Peter A Smit, Maaike de Vries, Johannis B C de Klerk, Annet M Bosch, Gepke Visser, Margot F Mulder, M Estela Rubio-Gozalbo, Bert Elvers, Klary E Niezen-Koning, Ronald J A Wanders

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 260 KB

english, 2012

22

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Marc Engelen, Stephan Kemp, Marianne de Visser, Björn M van Geel, Ronald JA Wanders, Patrick Aubourg, Bwee Tien Poll-The

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 529 KB

english, 2012

23

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Hugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe C Gottlieb, Sarah E Lawrence, Alex MacKenzie, Chandree L Beaulieu, Petra A W Mooyer, Ronald J A Wanders, Jacek Majewski, Dennis E Bulma

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 682 KB

english, 2012

24

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient

Violante, Sara, IJlst, Lodewijk, te Brinke, Heleen, Koster, Janet, Tavares de Almeida, Isabel, Wanders, Ronald J.A., Ventura, Fátima V., Houten, Sander M.

Journal:

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

Year:

2013

Language:

english

File:

PDF, 1.30 MB

english, 2013

25

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

26

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

27

Comment on the paper “Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: A revisit”

Engelen, Marc, Ofman, Rob, Dijkgraaf, Marcel, van Geel, Bjorn, de Visser, Marianne, Wanders, Ronald, Poll-The, Bwee Tien, Kemp, Stephan

Journal:

Clinical Neurology and Neurosurgery

Year:

2013

Language:

english

File:

PDF, 200 KB

english, 2013

28

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

29

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

Hagen, Jacob, te Brinke, Heleen, Wanders, Ronald J. A., Knegt, Alida C., Oussoren, Esmee, Hoogeboom, A. Jeannette M., Ruijter, George J. G., Becker, Daniel, Schwab, Karl Otfried, Franke, Ingo, Duran,

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 397 KB

english, 2015

30

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

31

N -lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids

Jansen, Robert S., Addie, Ruben, Merkx, Remco, Fish, Alexander, Mahakena, Sunny, Bleijerveld, Onno B., Altelaar, Maarten, IJlst, Lodewijk, Wanders, Ronald J., Borst, P., van de Wetering, Koen

Journal:

Proceedings of the National Academy of Sciences

Year:

2015

Language:

english

File:

PDF, 839 KB

english, 2015

32

Zellweger spectrum disorders: clinical overview and management approach

Klouwer, Femke C. C., Berendse, Kevin, Ferdinandusse, Sacha, Wanders, Ronald J. A., Engelen, Marc, Poll-The, Bwee Tien

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.24 MB

english, 2015

33

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 662 KB

english, 2018

34

Reference Module in Neuroscience and Biobehavioral Psychology || Peroxisomal Diseases ☆

Wanders, Ronald J.A.

Year:

2017

Language:

english

File:

PDF, 89 KB

english, 2017

35

Takashi Hashimoto, Professor Emeritus at the Department of Biochemistry, Shinshu University Graduate School of Medicine, Matsumoto, Japan (b 14 March 1933; q 1962 at the University of Tokyo; d 18 April 2019; Japan)

Fukao, Toshiyuki, Yamaguchi, Seiji, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Orii, Tadao, Wanders, Ronald J. A.

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

Language:

english

File:

PDF, 286 KB

english, 2020

36

Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: Clinico-biochemical delineation of a subtype and complementation studies

Barth, Peter G., Wanders, Ronald J. A., Schutgens, Ruud B. H., Staalman, Chris R.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 514 KB

english, 1996

37

Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies

Josef Houštěk, Petr Klement, Jana Heřmanská, Hana Antonická, Hana Houšťková, Leona Stratilová, Ronald J. A. Wanders, Jiří Zeman

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 288 KB

english, 1999

38

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

Zhongyi Zhang, Yasuyuki Suzuki, Nobuyuki Shimozawa, Seiji Fukuda, Atsushi Imamura, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Tadao Orii, Ronald J.A. Wanders, Peter G. Barth, Hugo W. Moser, Barba

Journal:

Year:

1999

Language:

english

File:

PDF, 425 KB

english, 1999

39

Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping

Hiroh Watanabe, Kenji E. Orii, Toshiyuki Fukao, Xiang-Qian Song, Toshifumi Aoyama, Lodewijk IJlst, Jos Ruiter, Ronald J.A. Wanders, Naomi Kondo

Journal:

Year:

2000

Language:

english

File:

PDF, 343 KB

english, 2000

40

A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis

Cora M. Aalfs, Georgette B. Salieb-Beugelaar, Ronald J.A. Wanders, Marcel M.A.M. Mannens, Frits A. Wijburg

Journal:

Year:

2000

Language:

english

File:

PDF, 209 KB

english, 2000

41

VACTERL and hydrocephalus

Frits A. Beemer, Ronald J. A. Wanders, Ruud B. J. Schutgens

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 98 KB

english, 1990

42

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome

Fernanda A.A. Langius, Hans R. Waterham, Gerrit Jan Romeijn, Wendy Oostheim, Martina M.J. de Barse, Lambertus Dorland, Marinus Duran, Frits A. Beemer, Ronald J.A. Wanders, Bwee Tien Poll-The

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 153 KB

english, 2003

43

Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients

Bwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, Johannis B.C. de Klerk, Liesbeth J. Maillette de Buy Wenniger-Prick, Ronald J.C. Admiraal, Hans R. Waterham, Ronald J.A. Wanders, Peter G. Barth

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 196 KB

english, 2004

44

Metabolic and molecular basis of peroxisomal disorders: A review

Ronald J.A. Wanders

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 547 KB

english, 2004

45

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update

Peter G. Barth, Fredoen Valianpour, Valerie M. Bowen, Jan Lam, Marinus Duran, Frédéric M. Vaz, Ronald J.A. Wanders

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 137 KB

english, 2004

46

Zellweger syndrome resulting from maternal isodisomy of chromosome 1

Claire L.S. Turner, David J. Bunyan, N. Simon Thomas, Deborah J.G. Mackay, Huw P. Jones, Hans R. Waterham, Ronald J.A. Wanders, I. Karen Temple

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 160 KB

english, 2007

47

Peroxisomal acyl-CoA-oxidase deficiency: Two new cases

Rosalba Carrozzo, Carlo Bellini, Simona Lucioli, Federica Deodato, Denise Cassandrini, Michela Cassanello, Ubaldo Caruso, Cristiano Rizzo, Teresa Rizza, Matteo L. Napolitano, Ronald J.A. Wanders, Corn

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 282 KB

english, 2008

48

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder

Sarar Mohamed, Ebtisam El-Meleagy, Abdelhaleem Nasr, Merel S. Ebberink, Ronald J.A. Wanders, Hans R. Waterham

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 93 KB

english, 2010

49

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Sabine Grønborg, Ralph Krätzner, Juliane Spiegler, Sacha Ferdinandusse, Ronald J.A. Wanders, Hans R. Waterham, Jutta Gärtner

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 172 KB

english, 2010

50

Clinical variability in 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency

Regina Ensenauer, Helmut Niederhoff, Jos P. N. Ruiter, Ronald J. A. Wanders, K. Otfried Schwab, Matthias Brandis, Willy Lehnert

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 1.72 MB

english, 2002

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