Poll‐The, Bwee Tien : rechercher sur Z-Library

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51

X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

Engelen, Marc, Kemp, Stephan, Poll-The, Bwee-Tien

Journal:

Current Neurology and Neuroscience Reports

Année:

2014

Langue:

english

Fichier:

PDF, 332 KB

english, 2014

52

Clinical utility gene card for: Zellweger syndrome spectrum

Rosewich, Hendrik, Waterham, Hans, Poll-The, Bwee Tien, Ohlenbusch, Andreas, Gärtner, Jutta

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 211 KB

english, 2015

53

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

van Geel, Björn M., Poll-The, Bwee Tien, Verrips, Aad, Boelens, Jaap-Jan, Kemp, Stephan, Engelen, Marc

Journal:

Journal of Inherited Metabolic Disease

Année:

2015

Langue:

english

Fichier:

PDF, 96 KB

english, 2015

54

“Role of peroxisomes in human lipid metabolism and its importance for neurological development”

Wanders, Ronald J.A., Poll-The, Bwee Tien

Journal:

Neuroscience Letters

Année:

2015

Langue:

english

Fichier:

PDF, 825 KB

english, 2015

55

Lovastatin in X-Linked Adrenoleukodystrophy

Engelen, Marc, Ofman, Rob, Dijkgraaf, Marcel G.W., Hijzen, Michiel, van der Wardt, Lucinda A., van Geel, Bjorn M., de Visser, Marianne, Wanders, Ronald J.A., Poll-The, Bwee Tien, Kemp, Stephan

Journal:

Boston Medical and Surgical Journal

Année:

2010

Langue:

english

Fichier:

PDF, 90 KB

english, 2010

56

In Vivo Study of Phytanic Acid α-Oxidation in Classic Refsum's Disease and Chondrodysplasia Punctata

Ten Brink, Herman J, Schor, Danielle S M, Kok, Robert M, Stellaard, Frans, Kneer, Johannes, Poll-The, Bwee Tien, Saudubray, Jean-Marie, Jakobs, Cornelis

Journal:

Pediatric Research

Année:

1992

Langue:

english

Fichier:

PDF, 639 KB

english, 1992

57

Pyridoxine-Dependent Epilepsy: an expanding clinical spectrum

van Karnebeek, Clara D.M., Tiebout, Sylvia A., Niermeijer, Jikkemien, Poll-The, Bwee Tien, Ghani, Aisha, Coughlin, Curtis R., Van Hove, Johan L.K., Richter, Jost Wigand, Christen, Hans Juergen, Gallag

Journal:

Pediatric Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 877 KB

english, 2016

58

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders

Klouwer, Femke C.C., Abdulrahman, Hanna, Poll-The, Bwee Tien

Journal:

Molecular Genetics and Metabolism Reports

Année:

2016

Langue:

english

Fichier:

PDF, 112 KB

english, 2016

59

l-Serine in disease and development

de KONING, Tom J., SNELL, Keith, DURAN, Marinus, BERGER, Ruud, POLL-THE, Bwee-Tien, SURTEES, Robert

Journal:

Biochemical Journal

Année:

2003

Langue:

english

Fichier:

PDF, 182 KB

english, 2003

60

Pediatric Traumatic Brain Injury Affects Multisensory Integration.

Königs, Marsh, Weeda, Wouter D., van Heurn, L. W. Ernest, Vermeulen, R. Jeroen, Goslings, J. Carel, Luitse, Jan S. K., Poll-The, Bwee Tien, Beelen, Anita, van der Wees, Marleen, Kemps, Rachèl J. J. K.

Journal:

Neuropsychology

Année:

2016

Langue:

english

Fichier:

PDF, 430 KB

english, 2016

61

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1 -related spinocerebellar ataxia's

van Dijk, Tessa, Barth, Peter, Reneman, Liesbeth, Appelhof, Bart, Baas, Frank, Poll-The, Bwee Tien

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 430 KB

english, 2016

62

Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury

Königs, Marsh, Pouwels, Petra JW, Ernest van Heurn, LW, Bakx, Roel, Jeroen Vermeulen, R, Carel Goslings, J, Poll-The, Bwee Tien, van der Wees, Marleen, Catsman-Berrevoets, Coriene E, Oosterlaan, Jaap

Journal:

Brain Imaging and Behavior

Année:

2017

Langue:

english

Fichier:

PDF, 1.98 MB

english, 2017

63

The structural connectome of children with traumatic brain injury

Königs, Marsh, van Heurn, L. W. Ernest, Bakx, Roel, Vermeulen, R. Jeroen, Goslings, J. Carel, Poll-The, Bwee Tien, van der Wees, Marleen, Catsman-Berrevoets, Coriene E., Oosterlaan, Jaap, Pouwels, Pet

Journal:

Human Brain Mapping

Année:

2017

Langue:

english

Fichier:

PDF, 523 KB

english, 2017

64

Lifelong course of Zellweger spectrum disorders: A cohort study

Klouwer, Femke C.C., Berendse, Kevin, Engelen, Marc, Vaz, Frédéric M., Ferdinandusse, Sacha, Waterham, Hans R., Wanders, Ronald J.A., Poll-The, Bwee Tien

Journal:

European Journal of Paediatric Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 42 KB

english, 2017

65

Brain atrophy following hemiplegic migraine attacks

Pelzer, Nadine, Hoogeveen, Evelien S, Ferrari, Michel D, Poll-The, Bwee Tien, Kruit, Mark C, Terwindt, Gisela M

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 430 KB

english, 2017

66

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

Klouwer, Femke C. C., Ferdinandusse, Sacha, van Lenthe, Henk, Kulik, Wim, Wanders, Ronald J. A., Poll-The, Bwee Tien, Waterham, Hans R., Vaz, Frédéric M.

Journal:

Journal of Inherited Metabolic Disease

Année:

2017

Langue:

english

Fichier:

PDF, 636 KB

english, 2017

67

Development and validation of a severity scoring system for Zellweger spectrum disorders

Klouwer, Femke C.C., Meester-Delver, Anke, Vaz, Frédéric M, Waterham, Hans R., Hennekam, Raoul C.M., Poll-The, Bwee Tien

Journal:

Clinical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.57 MB

english, 2017

68

Letter to the editor

Klouwer, Femke C.C., Braverman, Nancy E., Verkade, Henkjan J., Berendse, Kevin, Waterham, Hans R., Wanders, Ronald J.A., Poll-The, Bwee Tien, Koot, Bart G.P.

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Année:

2017

Langue:

english

Fichier:

PDF, 34 KB

english, 2017

69

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K

Zeynelabidin, Sara, Klouwer, Femke C. C., Meijers, Joost C. M., Suijker, Monique H., Engelen, Marc, Poll-The, Bwee Tien, van Ommen, C. Heleen

Journal:

Journal of Inherited Metabolic Disease

Année:

2017

Langue:

english

Fichier:

PDF, 719 KB

english, 2017

70

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

Simons, Cas, Dyment, David, Bent, Stephen J, Crawford, Joanna, D’Hooghe, Marc, Kohlschütter, Alfried, Venkateswaran, Sunita, Helman, Guy, Poll-The, Bwee-Tien, Makowski, Christine C, Ito, Yoko, Kernoha

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 518 KB

english, 2017

71

Dynamic Changes of Plasma Acylcarnitine Levels Induced by Fasting and Sunflower Oil Challenge Test in Children

Costa, Catarina C G, De Almeida, Isabel Tavares, Jakobs, Cornelis, Poll-The, Bwee-Tien, Duran, Marinus

Journal:

Pediatric Research

Année:

1999

Fichier:

PDF, 70 KB

1999

72

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

van Dijk, Tessa, Vermeij, Jan-Dirk, van Koningsbruggen, Silvana, Lakeman, Phillis, Baas, Frank, Poll-The, Bwee Tien

Journal:

Journal of Inherited Metabolic Disease

Année:

2018

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2018

73

Bezafibrate for X-Linked Adrenoleukodystrophy

Engelen, Marc, Tran, Luc, Ofman, Rob, Brennecke, Josephine, Moser, Ann B., Dijkstra, Inge M. E., Wanders, Ronald J. A., Poll-The, Bwee Tien, Kemp, Stephan, Baud, Olivier

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 101 KB

english, 2012

74

Impaired Visual Integration in Children with Traumatic Brain Injury: An Observational Study

Königs, Marsh, Weeda, Wouter D., van Heurn, L. W. Ernest, Vermeulen, R. Jeroen, Goslings, J. Carel, Luitse, Jan S. K., Poll-Thé, Bwee Tien, Beelen, Anita, van der Wees, Marleen, Kemps, Rachèl J. J. K.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 873 KB

english, 2015

75

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P. N., Alders, Mariëlle, Mathijssen, Inge B., Parboosingh, Jillian S., Innes, A. Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Fran

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.23 MB

english, 2018

76

Correction to: Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury

Königs, Marsh, Pouwels, Petra JW, Ernest van Heurn, LW, Bakx, Roel, Jeroen Vermeulen, R, Goslings, JC, Poll-The, Bwee Tien, van der Wees, Marleen, Catsman-Berrevoets, Coriene E, Oosterlaan, Jaap

Journal:

Brain Imaging and Behavior

Année:

2018

Langue:

english

Fichier:

PDF, 286 KB

english, 2018

77

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder

Berendse, Kevin, Boek, Maxim, Gijbels, Marion, Van der Wel, Nicole N., Klouwer, Femke C., van den Bergh-Weerman, Marius A., Shinde, Abhijit Babaji, Ofman, Rob, Poll-The, Bwee Tien, Houten, Sander M.,

Journal:

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

Année:

2019

Langue:

english

Fichier:

PDF, 13.00 MB

english, 2019

78

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

Duker, Angela L., Niiler, Timothy, Kinderman, Dagmar, Schouten, Monica, Poll‐The, Bwee Tien, Braverman, Nancy, Bober, Michael B.

Journal:

American Journal of Medical Genetics Part A

Année:

2019

Langue:

english

Fichier:

PDF, 1.23 MB

english, 2019

79

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

Duker, Angela L., Niiler, Timothy, Kinderman, Dagmar, Schouten, Monica, Poll‐The, Bwee Tien, Braverman, Nancy, Bober, Michael B.

Journal:

American Journal of Medical Genetics Part A

Année:

2019

Fichier:

PDF, 1.23 MB

2019

80

Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid Î²-oxidation disorders

Costa, Catarina G, Dorland, Lambertus, Holwerda, Ulbe, Tavares de Almeida, Isabel, Poll-The, Bwee-Tien, Jakobs, Cornelis, Duran, Marinus

Journal:

Clinical Chemistry

Année:

1998

Fichier:

PDF, 396 KB

1998

81

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome

Hoytema van Konijnenburg, Eva M.M., Luirink, Ilse K., Schagen, Sebastian E.E., Engelen, Marc, Berendse, Kevin, Poll-The, Bwee Tien, Chegary, Malika

Journal:

Molecular Genetics and Metabolism Reports

Année:

2020

Fichier:

PDF, 149 KB

2020