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Gepke Visser

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Eugène F Diekman; Marinus Duran; Lodewijk IJlst; Berthil H C M T Prinsen; Carolien C A Boelen; Tom J de Koning; Ronald J A Wanders; Hans R Waterham; Frits A Wijburg; Gepke Visser
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Carla E M Hollak; Dirk J Lefeber; Gabor E Linthorst; M Mannens; Wouter Meersseman; Eva Morava; M F Mulder; Klary E Niezen-Koning; J M F G Aerts; Erik M Akkerman; David Cassiman; E S V de Sonnaville; Johanna E M Groener; Gepke Visser; Ron A Wevers; Frits A Wijburg; B J H M Poorthuis
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Monique Albersen; Marjolein Bosma; Tom J de Koning; Monique G M de Sain-Van Der Velden; Floris Groenendaal; Maria van der Ham; Gepke Visser; Wouter F Visser; Nanda M Verhoeven-Duif
Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants.

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All Publications

2013: Eugène F Diekman; Marinus Duran; Lodewijk IJlst; Berthil H C M T Prinsen; Carolien C A Boelen; Tom J de Koning; Ronald J A Wanders; Hans R Waterham; Frits A Wijburg; Gepke Visser
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
JIMD reports 2013;7():1-6.
2012: Carla E M Hollak; Dirk J Lefeber; Gabor E Linthorst; M Mannens; Wouter Meersseman; Eva Morava; M F Mulder; Klary E Niezen-Koning; J M F G Aerts; Erik M Akkerman; David Cassiman; E S V de Sonnaville; Johanna E M Groener; Gepke Visser; Ron A Wevers; Frits A Wijburg; B J H M Poorthuis
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Molecular genetics and metabolism 2012;107(3):526-33.
2012: Monique Albersen; Marjolein Bosma; Tom J de Koning; Monique G M de Sain-Van Der Velden; Floris Groenendaal; Maria van der Ham; Gepke Visser; Wouter F Visser; Nanda M Verhoeven-Duif
Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants.
Pediatrics 2012;130(1):e191-8.
2012: Merel S Ebberink; Johanna M Fock; Stephan Kemp; Janet Koster; G Peter A Smit; Francjan van Spronsen; Irene Stolte-Dijkstra; Gepke Visser; Ronald J A Wanders; Hans R Waterham
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
Journal of medical genetics 2012;49(5):307-13.
2012: Gepke Visser; Frits A Wijburg; Paul J Coffer; Wilco de Jager; Berent J Prakken; G Peter A Smit; Liesbeth P Verhagen; Miranda Buitenhuis
Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.
Journal of inherited metabolic disease 2012;35(2):287-300.
2012: Robert P L Wisse; Dienke Wittebol-Post; Gepke Visser; Allegonda Van der Lelij
Corneal depositions in tyrosinaemia type I during treatment with Nitisinone.
BMJ case reports 2012;2012():.
2012: Catharina M L Touw; Gepke Visser; Ronald J A Wanders; Hans R Waterham; Annet M Bosch; Johannis B C de Klerk; Maaike de Vries; Bert Elvers; Margot F Mulder; Klary E Niezen-Koning; Dirk-Jan Reijngoud; M Estela Rubio-Gozalbo; G Peter A Smit; Terry G J Derks
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Orphanet journal of rare diseases 2012;7():30.
2011: Merel van Veen; Peter M van Hasselt; Monique G M de Sain-Van Der Velden; Nanda Verhoeven; Floris C Hofstede; Tom J de Koning; Gepke Visser
Metabolic profiles in children during fasting.
Pediatrics 2011;127(4):e1021-7.
2011: Annet M Bosch; N 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
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.
Journal of inherited metabolic disease 2011;34(1):159-64.
2010: Hidde H Huidekoper; Gepke Visser; Mariëtte T Ackermans; Hans P Sauerwein; Frits A Wijburg
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.
Journal of inherited metabolic disease 2010;33(1):25-31.
2010: Tim Takken; Wim G Groen; Erik H Hulzebos; Cornelia G Ernsting; Peter M van Hasselt; Berthil H Prinsen; Paul J Helders; Gepke Visser
Exercise stress testing in children with metabolic or neuromuscular disorders.
International journal of pediatrics 2010;2010():.
2009: Gepke Visser; Francjan J van Spronsen; Monique G M de Sain-Van Der Velden; Henk J Blom; Frits A Wijburg
[Extensive neonatal heel injection screening for metabolic diseases in the Netherlands].
Nederlands tijdschrift voor geneeskunde 2009;153(18):848-53.
2008: Monique G M de Sain-Van Der Velden; Berthil H C M T Prinsen; A Verrips; Ruud Berger; Martina M J de Barse; Gepke Visser
Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX.
Journal of inherited metabolic disease 2008;31 Suppl 2():S387-93.
2008: Hannelie M Engbers; Ruud Berger; Peter van Hasselt; Tom J de Koning; Monique G M de Sain-Van Der Velden; Hester Y Kroes; Gepke Visser
Yield of additional metabolic studies in neurodevelopmental disorders.
Annals of neurology 2008;64(2):212-7.
2008: M T Wijburg; L J Maillette de Buy Wenniger-Prick; Annet M Bosch; Gepke Visser; A Bams-Mengerink
[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder].
Nederlands tijdschrift voor geneeskunde 2008;152(11):632-6.
2007: M Aldenhoven; Leo W J Klomp; P M van Hasselt; Tom J de Koning; Gepke Visser
[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect].
Nederlands tijdschrift voor geneeskunde 2007;151(41):2266-70.
2007: Sascha Vermeer; David A Koolen; Gepke Visser; Hein J L Brackel; Ineke van der Burgt; Nicole de Leeuw; Michèl A A P Willemsen; Erik A Sistermans; Rolph Pfundt; Bert B A de Vries
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.
Developmental medicine and child neurology 2007;49(5):380-4.
2006: D H J Martens; Taco W Kuijpers; Nikolai A Maianski; Jan Peter Rake; G Peter A Smit; Gepke Visser
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.
Journal of inherited metabolic disease 2006;29(1):224-5.
2005: Hester Y Kroes; Rutger-Jan A J Nievelstein; Peter G Barth; Peter Nikkels; Carsten Bergmann; R H J M Gooskens; Gepke Visser; Hans Kristian Ploos van Amstel; Frits A Beemer
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.
American journal of medical genetics. Part A 2005;135(3):297-301.
2004: Robert Kleta; Elisa Romeo; Zorica Ristic; Toshihiro Ohura; Caroline Stuart; Mauricio Arcos-Burgos; Mital H Dave; Carsten A Wagner; Simone R M Camargo; Sumiko Inoue; Norio Matsuura; Amanda Helip-Wooley; Detlef Bockenhauer; Richard Warth; Isa Bernardini; Gepke Visser; Thomas Eggermann; Philip Lee; Arthit Chairoungdua; Promsuk Jutabha; Ellappan Babu; Sirinun Nilwarangkoon; Naohiko Anzai; Yoshikatsu Kanai; François Verrey; William A Gahl; Akio Koizumi
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature genetics 2004;36(9):999-1002.
2003: Taco W Kuijpers; Nikolai A Maianski; Anton T J Tool; G Peter A Smit; Jan Peter Rake; Dirk Roos; Gepke Visser
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).
Blood 2003;101(12):5021-4.
2003: Jan Peter Rake; Gepke Visser; D Huismans; S Huitema; Eveline van der Veer; D A Piers; G Peter A Smit
Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study.
Journal of inherited metabolic disease 2003;26(4):371-84.
2003: H M Schippers; G Peter A Smit; Jan Peter Rake; Gepke Visser
Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).
Journal of inherited metabolic disease 2003;26(1):43-7.
2002: Gepke Visser; Jan Peter Rake; Philippe Labrune; James V Leonard; Shimon Moses; Kurt Ullrich; Udo Wendel; G Peter A Smit
Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.
European journal of pediatrics 2002;161 Suppl 1():S120-3.
2002: Jan Peter Rake; Gepke Visser; Philippe Labrune; James V Leonard; Kurt Ullrich; G Peter A Smit
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).
European journal of pediatrics 2002;161 Suppl 1():S112-9.
2002: Gepke Visser; Jan Peter Rake; Philippe Labrune; James V Leonard; Shimon Moses; Kurt Ullrich; Udo Wendel; Klaas H Groenier; G Peter A Smit
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1.
European journal of pediatrics 2002;161 Suppl 1():S83-7.
2002: Jan Peter Rake; Gepke Visser; Philippe Labrune; James V Leonard; Kurt Ullrich; G Peter A Smit
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).
European journal of pediatrics 2002;161 Suppl 1():S20-34.
2002: Gepke Visser; Jan Peter Rake; F T M Kokke; Peter Nikkels; P J J Sauer; G Peter A Smit
Intestinal function in glycogen storage disease type I.
Journal of inherited metabolic disease 2002;25(4):261-7.
2002: Melle D Talsma; Marian A Kroos; Gepke Visser; Jan L L Kimpen; Klary E Niezen
A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection.
Pediatrics 2002;109(4):e65.
2002: Robert H J Bandsma; Jan Peter Rake; Gepke Visser; Richard A Neese; Marc K Hellerstein; Wim van Duyvenvoorde; Hans M G Princen; Frans Stellaard; G Peter A Smit; Folkert Kuipers
Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a.
The Journal of pediatrics 2002;140(2):256-60.
2000: Gepke Visser; Terttu Suormala; G Peter A Smit; Dirk-Jan Reijngoud; Margreet Th E Bink-Boelkens; Klary E Niezen-Koning; E Regula Baumgartner
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.
European journal of pediatrics 2000;159(12):901-4.
2000: Gepke Visser; Jan Peter Rake; J Fernandes; Philippe Labrune; James V Leonard; Shimon Moses; Kurt Ullrich; G Peter A Smit
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.
The Journal of pediatrics 2000;137(2):187-91.
2000: Jan Peter Rake; Francjan J van Spronsen; Gepke Visser; W Ruitenbeek; J J Schweizer; C M A Bijleveld; Paul M J G Peeters; Koert P de Jong; Maarten J H Slooff; Dirk-Jan Reijngoud; Klary E Niezen-Koning; G Peter A Smit
End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation.
European journal of pediatrics 2000;159(7):523-6.
2000: Jan Peter Rake; AM ten Berge; Gepke Visser; Edwin Verlind; Klary E Niezen-Koning; Charles H C M Buys; G Peter A Smit; Hans Scheffer
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
European journal of pediatrics 2000;159(5):322-30.
2000: Jan Peter Rake; AM ten Berge; Gepke Visser; Edwin Verlind; Klary E Niezen-Koning; Charles H C M Buys; G Peter A Smit; Hans Scheffer
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
Human mutation 2000;15(4):381.
1999: Y M Jeucken; Gepke Visser; A S Jaarsma; Francjan J van Spronsen
[A child with dark discoloration of urine].
Nederlands tijdschrift voor geneeskunde 1999;143(32):1641-3.
1999: Arthur J Verhoeven; Gepke Visser; Rob van Zwieten; B Gruszczynska; D W Tien Poll-The; G Peter A Smit
A convenient diagnostic function test of peripheral blood neutrophils in glycogen storage disease type Ib.
Pediatric research 1999;45(6):881-5.
1999: Jan Peter Rake; AM ten Berge; Edwin Verlind; Gepke Visser; Klary E Niezen-Koning; Charles H C M Buys; G Peter A Smit; Hans Scheffer
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
Human mutation 1999;13(2):173.
1998: Gepke Visser; J Herwig; Jan Peter Rake; Klary E Niezen-Koning; A J Verhoeven; G Peter A Smit
Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c.
Journal of inherited metabolic disease 1998;21(3):227-31.
1997: Klary E Niezen-Koning; R J Wanders; Jos P N Ruiter; Lodewijk IJlst; Gepke Visser; W C Reitsma-Bierens; Hugo S A Heymans; Dirk-Jan Reijngoud; G Peter A Smit
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
European journal of pediatrics 1997;156(11):870-3.
1996: Anne M J Paans; Jan Pruim; G Peter A Smit; Gepke Visser; Antoon T M Willemsen; K Ullrich
Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study.
European journal of pediatrics 1996;155 Suppl 1():S78-81.
1995: J B van Woensel; C G Hoogeveen; J H Begeer; Gepke Visser; Jan L L Kimpen
Intracranial tuberculosis in The Netherlands: four paediatric cases.
European journal of pediatrics 1995;154(7):546-50.
1995: Francjan J van Spronsen; G Peter A Smit; F A Wijburg; Y Thomasse; Gepke Visser; Hugo S A Heymans
Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation.
Journal of inherited metabolic disease 1995;18(2):111-4.