Frits A. Wijburg: search on Z-Library

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1

Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand

Hidde H. Huidekoper, Marinus Duran, Marjolein Turkenburg, Mariëtte T. Ackermans, Hans P. Sauerwein, Frits A. Wijburg

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 150 KB

english, 2008

2

High dose genistein aglycone in Sanfilippo syndrome: Results of a randomised, double-blinded, placebo controlled clinical trial

Ghosh, Arunabha, Rust, Stewart, Weisberg, Daniel, Canal, Maria, Wijburg, Frits A., Vaz, Fred M., Tylee, Karen L., Church, Heather J., Hepburn, Michelle, Bigger, Brian W., Jones, Simon A.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

3

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

Amber E ten Hoedt, Carla EM Hollak, Carolien CA Boelen, N Ada P van der Herberg-van de Wetering, Nienke M ter Horst, Cora F Jonkers, Frits A Wijburg, Annet M Bosch

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 572 KB

english, 2011

4

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

Marlies J Valstar, Jan Pieter Marchal, Martha Grootenhuis, Vivian Colland, Frits A Wijburg

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 847 KB

english, 2011

5

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

Amber E. ten Hoedt, Leo M. J. de Sonneville, Baudouin Francois, Nienke M. ter Horst, Mirian C. H. Janssen, M. Estela Rubio-Gozalbo, Frits A. Wijburg, Carla E. M. Hollak, Annet M. Bosch

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

6

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life

Amber E. ten Hoedt, Heleen Maurice-Stam, Carolien C. A. Boelen, M. Estela Rubio-Gozalbo, Francjan J. van Spronsen, Frits A. Wijburg, Annet M. Bosch, Martha A. Grootenhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 139 KB

english, 2011

7

Drug Therapy of Hypercholesterolaemia in Children and Adolescent

Marjet J. A. M. Braamskamp, Frits A. Wijburg, Dr Albert Wiegman

Journal:

Year:

2012

Language:

english

File:

PDF, 165 KB

english, 2012

8

Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

Marc C Patterson, Eugen Mengel, Frits A Wijburg…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 111 KB

english, 2013

9

Disease and patient characteristics in NP-C patients: findings from an international disease registry

Marc C Patterson, Eugen Mengel, Frits A Wijburg…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 534 KB

english, 2013

10

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

11

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 480 KB

english, 2015

12

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Je

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 693 KB

english, 2015

13

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

14

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome

Pal, Abhijit Ricky, Langereis, Eveline J, Saif, Muhammad A, Mercer, Jean, Church, Heather J, Tylee, Karen L, Wynn, Robert F, Wijburg, Frits A, Jones, Simon A, Bruce, Iain A, Bigger, Brian W

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.20 MB

english, 2015

15

Global treatment response analysis of velmanase alfa long term enzyme replacement therapy for alpha-mannosidosis shows treatment benefit across ages

Harmatz, Paul, Cattaneo, Federica, Ardigò, Diego, Geraci, Silvia, Muschol, Nicole, Amraoui, Yasmina, Gil-Campos, Mercedes, Tylki-Szymanska, Anna, Wijburg, Frits, De Meirleir, Linda, Van den Hout, Joha

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 58 KB

english, 2018

16

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

Kuiper, Gé-Ann, Meijer, Olga L. M., Langereis, Eveline J., Wijburg, Frits A.

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 747 KB

english, 2018

17

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Tylki-Szymańska, Anna, De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Parini, Rossella, Wijburg, Frits A., Zeman, Jiri, Scarpa, Maurizio

Journal:

Acta Paediatrica

Year:

2018

Language:

english

File:

PDF, 423 KB

english, 2018

18

Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome

Aalfs, Cora M., Hoovers, Jan M.N., Wijburg, Frits A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 99 KB

english, 1999

19

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

20

Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review

Inge D.C. Van Balkom, Mariel Alders, Judith Allanson, Carlo Bellini, Ulrich Frank, Greetje De Jong, Ingeborg Kolbe, Didier Lacombe, Stan Rockson, Peter Rowe, Frits Wijburg, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 330 KB

english, 2002

21

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations

Marlies J. Valstar, Sanne Neijs, Hennie T. Bruggenwirth, Renske Olmer, George J. G. Ruijter, Ron A. Wevers, Otto P. van Diggelen, Ben J. Poorthuis, Dicky J. Halley, Frits A. Wijburg

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 358 KB

english, 2010

22

Genistein in Sanfilippo disease: A randomized controlled crossover trial

Jessica de Ruijter, Marlies J. Valstar, Magdalena Narajczyk, Grzegorz Wegrzyn, Wim Kulik, Lodewijk IJlst, Tom Wagemans, Willem M. van der Wal, Frits A. Wijburg

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 445 KB

english, 2012

23

Identification of novel mutations in classical galactosemia

Annet M. Bosch, Lodewijk IJlst, Wendy Oostheim, Joyce Mulders, Henk D. Bakker, Frits A. Wijburg, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Year:

2005

Language:

english

File:

PDF, 177 KB

english, 2005

24

Elevated globotriaosylsphingosine as a hallmark of Fabry disease

Ben J. Poorthuis, Johanna E. Groener, Roelof Ottenhoff, Frits A. Wijburg, Carla E. Hollak, Johannes M. Aerts

Journal:

Chemistry and Physics of Lipids

Year:

2008

Language:

english

File:

PDF, 57 KB

english, 2008

25

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

Nadia A. Oey, Jos P. N. Ruiter, Tania Attié-Bitach, Lodewijk IJlst, Ronald J. A. Wanders, Frits A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 236 KB

english, 2006

26

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

Bianca T. van Maldegem, Ronald J. A. Wanders, Frits A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 127 KB

english, 2010

27

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency

Hidde H. Huidekoper, Gepke Visser, Mariëtte T. Ackermans, Hans P. Sauerwein, Frits A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

28

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

Marlies J. Valstar, Hennie T. Bruggenwirth, Renske Olmer, Ron A. Wevers, Frans W. Verheijen, Ben J. Poorthuis, Dicky J. Halley, Frits A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 182 KB

english, 2010

29

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

Ute Spiekerkoetter, Jean Bastin, Melanie Gillingham, Andrew Morris, Frits Wijburg, Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

30

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Annet M. Bosch, Nico G. G. M. Abeling, Lodewijk IJlst, Hennie Knoester, W. Ludo van der Pol, Alida E. M. Stroomer, Ronald J. Wanders, Gepke Visser, Frits A. Wijburg, Marinus Duran, Hans R. Waterham

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 114 KB

english, 2011

31

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients

Gepke Visser, Wilco de Jager, Liesbeth P. Verhagen, G. Peter A. Smit, Frits A. Wijburg, Berent J. Prakken, Paul J. Coffer, Miranda Buitenhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 513 KB

english, 2012

32

Clinical implications of mutation analysis in primary hyperoxaluria type 1

VAN WOERDEN, CHRISTIAAN S, GROOTHOFF, JAAP W, WIJBURG, FRITS A, ANNINK, CARLA, WANDERS, RONALD J A, WATERHAM, HANS R

Journal:

Kidney International

Year:

2004

Language:

english

File:

PDF, 81 KB

english, 2004

33

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

Smits, Paulien, Mattijssen, Sandy, Morava, Eva, van den Brand, Mariël, van den Brandt, Frans, Wijburg, Frits, Pruijn, Ger, Smeitink, Jan, Nijtmans, Leo, Rodenburg, Richard

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 390 KB

english, 2009

34

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Motley, Alison M., Hettema, Ewald H., Hogenhout, Eveline M., Brites, Pedro, ten Asbroek, Anneloor L.M.A., Wijburg, Frits A., Baas, Frank, Heijmans, Hugo S., Tabak, Henk F., Wanders, Ronald J.A.

Journal:

Nature Genetics

Year:

1997

File:

PDF, 714 KB

1997

35

Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands

Houten, Sander M, van Woerden, Christiaan S, Wijburg, Frits A, Wanders, Ronald J A, Waterham, Hans R

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 90 KB

english, 2003

36

Three-dimensional face shape in Fabry disease

Cox-Brinkman, Josanne, Vedder, Anouk, Hollak, Carla, Richfield, Linda, Mehta, Atul, Orteu, Kate, Wijburg, Frits, Hammond, Peter

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 218 KB

english, 2007

37

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

D’Aco, Kristin, Underhill, Lisa, Rangachari, Lakshmi, Arn, Pamela, Cox, Gerald F., Giugliani, Roberto, Okuyama, Torayuki, Wijburg, Frits, Kaplan, Paige

Journal:

European Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 2.23 MB

english, 2012

38

Atherogenic Lipoprotein Particle Size and Concentrations and the Effect of Pravastatin in Children with Familial Hypercholesterolemia

Anouk van der Graaf, Jessica Rodenburg, Maud N. Vissers, Barbara A. Hutten, Albert Wiegman, Mieke D. Trip, Erik S.G. Stroes, Frits A. Wijburg, James D. Otvos, John J.P. Kastelein

Journal:

The Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 106 KB

english, 2008

39

Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Bianca T. van Maldegem, Marinus Duran, Ronald J.A. Wanders, Hans R. Waterham, Tom J. de Koning, Estela Rubio, Frits A. Wijburg

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 419 KB

english, 2010

40

Rosuvastatin Lowers Coenzyme Q10 Levels, but not Mitochondrial Adenosine Triphosphate Synthesis, in Children with Familial Hypercholesterolemia

Hans J. Avis, Ian P. Hargreaves, Jos P.N. Ruiter, John M. Land, Ronald J. Wanders, Frits A. Wijburg

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 134 KB

english, 2011

41

Follow-Up of Children Diagnosed with Familial Hypercholesterolemia in a National Genetic Screening Program

Hans J. Avis, D. Meeike Kusters, Maud N. Vissers, Roeland Huijgen, Thomas H. Janssen, Albert Wiegman, Iris Kindt, John J.P. Kastelein, Frits A. Wijburg, Barbara A. Hutten

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 156 KB

english, 2012

42

Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond

Maarten R. Soeters, Hidde H. Huidekoper, Marinus Duran, Mariëtte T. Ackermans, Erik Endert, Eric Fliers, Frits A. Wijburg, Ronald J. Wanders, Hans P. Sauerwein, Mireille J. Serlie

Journal:

Year:

2010

Language:

english

File:

PDF, 169 KB

english, 2010

43

Children and adolescents with fabry disease

Frits A. Wijburg

Journal:

Clinical Therapeutics

Year:

2009

Language:

english

File:

PDF, 309 KB

english, 2009

44

Predicting health-related quality of life of parents of children with inherited metabolic diseases

Janneke Hatzmann, Marlies J Valstar, Annet M Bosch, Frits A Wijburg, Hugo SA Heymans, Martha A Grootenhuis

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 91 KB

english, 2009

45

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests

Marieke Biegstraaten, Ivo N van Schaik, Wouter Wieling, Frits A Wijburg, Carla EM Hollak

Journal:

Year:

2010

Language:

english

File:

PDF, 630 KB

english, 2010

46

Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion

Trijn Israëls, Jan Hoovers, Hanne M. Turpijn, Frits A. Wijburg, Raoul C. M. Hennekam

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.05 MB

english, 1996

47

Mitochondrial long chain fatty acid β-oxidation in man and mouse

Malika Chegary, Heleen te Brinke, Jos P.N. Ruiter, Frits A. Wijburg, Maria S.K. Stoll, Paul E. Minkler, Michel van Weeghel, Horst Schulz, Charles L. Hoppel, Ronald J.A. Wanders, Sander M. Houten

Journal:

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

Year:

2009

Language:

english

File:

PDF, 1.14 MB

english, 2009

48

Dried Blood Spot Analysis: An Easy and Reliable Tool to Monitor the Biochemical Effect of Hematopoietic Stem Cell Transplantation in Hurler Syndrome Patients

Mieke Aldenhoven, Tom J. de Koning, Frans W. Verheijen, Berthil H. Prinsen, Frits A. Wijburg, Ans T. van der Ploeg, Monique G.M. de Sain-van der Velden, JaapJan Boelens

Journal:

Biology of Blood and Marrow Transplantation

Year:

2010

Language:

english

File:

PDF, 142 KB

english, 2010

49

Postponing urine acidification for 24 h does not change the oxalate concentration

Christiaan S. van Woerden, Hidde H. Huidekoper, Jaap W. Groothoff, Frits A. Wijburg, Marinus Duran

Journal:

Clinica Chimica Acta

Year:

2007

Language:

english

File:

PDF, 113 KB

english, 2007

50

Liver mtDNA content increases during development: A comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion

Karl J. Morten, Neil Ashley, Frits Wijburg, Nedim Hadzic, Jeremy Parr, Sandeep Jayawant, Susan Adams, Laurence Bindoff, Henk D. Bakker, Giorgina Mieli-Vergani, Massimo Zeviani, Joanna Poulton

Journal:

Year:

2007

Language:

english

File:

PDF, 417 KB

english, 2007