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101

DMO04 Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance

P.G. Barth, C.B. Majoie, M.W.A. Caan, M.A.J. Weterman, M. Kyllerman, L.S. Smit, R.A. Kaplan, R.H. Haas, F. Baas, J.-M. Cobben, B.T. Poll-The

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 43 KB

english, 2007

102

IAO01 Disease course after a first demyelinating attack in children

R. Neuteboom, C. Catsman, M. Boon, E. Hoogervorst, H. Vles, R. Gooskens, J. Rotteveel, H. Stroink, B.T. Poll-The, E. Peeters, W.C.G. Overweg-Plandsoen, J. De Rijk, A. Verrips, R. Hintzen

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 45 KB

english, 2007

103

DO04 X-linked adrenoleukodystrophy: cholesterol-depletion increases mono-unsaturated very long chain fatty acids

M. Engelen, R. Ofman, B.T. Poll-The, R. Wanders, S. Kemp

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 44 KB

english, 2007

104

MLP08 Developmental delay and cerebral palsy associated with tryptophan hydroxylase deficiency

F. Langius, N. Abeling, M. Duran, B.T. Poll-The

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 47 KB

english, 2007

105

O1-3 Pontocerebellar hypoplasias, the emerging causes

B.T. Poll-The, Y. Namavar, B. Budde, P. Nuernberg, F. Baas, P.G. Barth

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

106

O7-9 Clinical and electroencephalographic effect of folinic acid treatment in Dutch Rett patients

E.E.O. Hagebeuk, J.H.T.M. Koelman, M. Duran, N.G. Abeling, E.V. Quadros, B.T. Poll-The

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 59 KB

english, 2009

107

P290 Instantaneous EEG-response upon pyridoxine-iv in infants with pyridoxine dependent epilepsy by ALDH7A1 gene-mutation

L.A. Bok, J.H. van der Hoeven, N.M. Maurits, C. Jakobs, L.K. Teune, E. Struys, I.F. de Coo, E.E. Hagebeuk, M. Toet, B.T. Poll-The, M.A. Willemsen, O.F. Brouwer, D.A. Sival

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

108

1FC4.6 A randomized study of folinic acid supplementation in Rett patients: no effects on the course of the disease

E.E. Odette, M. Duran, J.H.T.M Koelman, N.G. Abeling, A. Vyth, B.T. Poll-The

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 33 KB

english, 2011

109

3PS4.4 Metabolic diseases and eye

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 32 KB

english, 2011

110

P22.9 Congenital CMV infection and d-bifunctional protein deficiency; a rare cause of deafness and epilepsy

F. Langius, N. Wolf, B.T. Poll-The

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 34 KB

english, 2011

111

P21.4 Pontine tegmental cap dysplasia: further definition in a patient with a mild presentation

B.T. Poll-The, C. Majoie, M. Caan, J. Niermeijer, M. Weterman, F. Baas, P. Barth

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 36 KB

english, 2011

112

P26.11 Brainstem Auditory Evoked Potentials in Rett syndrome: a useful tool to evaluate central breathing disorders in Rett syndrome?

E.E. Odette, J.H.T.M. Koelman, R.P. Bijlmer, B.T. Poll-The

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 34 KB

english, 2011

113

Bile acids in peroxisomal disorders

J. R. VAN ELDERE, G. G. PARMENTIER, H. J. EYSSEN, R. J. WANDERS, R. B. SCHUTGENS, J. VAMECQ, F. VAN HOOF, B.-T. POLL-THE, J. M. SAUDUBRAY

Journal:

European Journal of Clinical Investigation

Year:

1987

Language:

english

File:

PDF, 483 KB

english, 1987

114

Antenatal diagnosis of infantile Refsum's disease

B. T. Poll-The, A. Poulos, P. Sharp, J. Boue, H. Ogier, M. Odièvre, J. M. Saudubray

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 198 KB

english, 1985

115

A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

T.J. de Koning, L. Dorland, O.P. van Diggelen, A.M.C. Boonman, G.J. de Jong, W.L. van Noort, Jear De Schryver, M. Duran, I.E.T. van den Berg, G.J. Gerwig, R. Berger, B.T. Poll-The

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 141 KB

english, 1998

116

Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography

Robert M. Kok, Lidie Kaster, Ad P.J.M. de Jong, Bweetien Poll-Thé, Jean-Marie Saudubray, Cornelis Jakobs

Journal:

Clinica Chimica Acta

Year:

1987

Language:

english

File:

PDF, 730 KB

english, 1987

117

Peroxisomal very long-chain fatty acid β-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

R.J.A. Wanders, C.W.T. van Roermund, M.J.A. van Wijland, J. Heikoop, R.B.H. Schutgens, A.W. Schram, J.M. Tager, H. van den Bosch, B.T. Poll-Thé, J.M. Saudubray, H.W. Moser, A.B. Moser

Journal:

Clinica Chimica Acta

Year:

1987

Language:

english

File:

PDF, 678 KB

english, 1987

118

Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group

A.M. Motley, H.F. Tabak, J.A.M. Smeitink, B.T. Poll-The, P.G. Barth, R.J.A. Wanders

Journal:

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

Year:

1996

Language:

english

File:

PDF, 436 KB

english, 1996

119

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

Bwee Tien Poll-The, Jutta Gärtner

Journal:

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

Year:

2012

Language:

english

File:

PDF, 972 KB

english, 2012

120

Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy

M. Engelen, R. Ofman, P.A.W. Mooijer, B.T. Poll-The, R.J.A. Wanders, S. Kemp

Journal:

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

Year:

2008

Language:

english

File:

PDF, 368 KB

english, 2008

121

The enigmatic role of tafazzin in cardiolipin metabolism

Riekelt H. Houtkooper, Marjolein Turkenburg, Bwee Tien Poll-The, Daniela Karall, Celia Pérez-Cerdá, Amelia Morrone, Sabrina Malvagia, Ronald J. Wanders, Willem Kulik, Frédéric M. Vaz

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

2009

Language:

english

File:

PDF, 812 KB

english, 2009

122

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

Hester Y. Kroes, Bert G.A. Van Zanten, Sander A. De Ru, Maartje Boon, Grazia M.S. Mancini, Marjo S. Van der Knaap, Bwee Tien Poll-The, Dick Lindhout

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2010

Language:

english

File:

PDF, 334 KB

english, 2010

123

Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA

Steven M. Schade van Westrum, Paul J. Nederkoorn, P. Richard Schuurman, Tom Vulsma, Marinus Duran, Bwee Tien Poll-The

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 139 KB

english, 2006

124

A vertebro-vertebral fistula as a complication of a jugular line

Mervyn D.I. Vergouwen, Charles B.L.M. Majoie, Willem-Jan J. van Rooij, Bwee-Tien Poll-The

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 352 KB

english, 2006

125

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

Peter G. Barth, Monique M. Ryan, Richard I. Webster, Eleonora Aronica, Alex Kan, Marja Ramkema, Philip Jardine, Bwee Tien Poll-The

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 1.52 MB

english, 2008

126

P3.22 A novel pathogenic mutation of the MPZ gene causing hereditary neuropathy

J.M.F. Niermeijer, M. Jansweijer, A. van der Kooi, F. van Ruissen, F. Baas, B.T. Poll-The, W.C.G. Overweg-Plandsoen

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 47 KB

english, 2011

127

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders

Antonella Peduto, Matthias R Baumgartner, Nanda M Verhoeven, Daniel Rabier, Marco Spada, Marie-Cecile Nassogne, Bwee-Tien T Poll-The, Giovanni Bonetti, Cornelis Jakobs, Jean-Marie Saudubray

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 462 KB

english, 2004

128

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases

Bwee Tien Poll-The, Ronald J.A Wanders, Jos P.N Ruiter, Rob Ofman, Charles B.L.M Majoie, Peter G Barth, Marinus Duran

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 432 KB

english, 2004

129

High incidence of hyperoxaluria in generalized peroxisomal disorders

Christiaan S. van Woerden, Jaap W. Groothoff, Frits A. Wijburg, Marinus Duran, Ronald J.A. Wanders, Peter G. Barth, Bwee Tien Poll-The

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 183 KB

english, 2006

130

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

Nico G. Abeling, Marinus Duran, Henk D. Bakker, Lida Stroomer, Beat Thöny, Nenad Blau, Jan Booij, Bwee Tien Poll-The

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 234 KB

english, 2006

131

Molecular and clinical characterization of a Moroccan Cog7 deficient patient

Bobby G. Ng, Christian Kranz, E.E.O. Hagebeuk, M. Duran, N.G.G.M. Abeling, B. Wuyts, Daniel Ungar, Vladimir Lupashin, C.M. Hartdorff, B.T. Poll-The, Hudson H. Freeze

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 555 KB

english, 2007

132

P.57 Increased resting ADP concentration and elevatedoxygen consumption in patients with a respiratory chain disorder

K. de Meer, J.A.L. Jeneson, M.J. Roef, B.T. Poll-The, R. Berger

Journal:

Clinical Nutrition

Year:

1997

Language:

english

File:

PDF, 147 KB

english, 1997

133

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Hans R. Waterham, Frits A. Wijburg, Raoul C.M. Hennekam, Peter Vreken, Bwee Tien Poll-The, Lambertus Dorland, Marinus Duran, Petr E. Jira, Jan A.M. Smeitink, Ron A. Wevers, Ronald J.A. Wanders

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 2.86 MB

english, 1998

134

Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

Leo W.J. Klomp, Tom J. de Koning, Helga E.M. Malingré, Ellen A.C.M. van Beurden, Miny Brink, Frans L. Opdam, Marinus Duran, Jaak Jaeken, Merce Pineda, Lionel van Maldergem, Bwee Tien Poll-The, Inge E.

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.34 MB

english, 2000

135

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

Rob Ofman, P.N. Jos Ruiter, Marike Feenstra, Marinus Duran, Tien Bwee Poll-The, Johannes Zschocke, Regina Ensenauer, Willy Lehnert, Jörn Oliver Sass, Wolfgang Sperl, J.A. Ronald Wanders

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 329 KB

english, 2003

136

Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring

TJ de Koning, M Duran, L Dorland, R Berger, BT Poll-The

Journal:

Year:

1996

Language:

english

File:

PDF, 25 KB

english, 1996

137

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

Amstel, J.K.Ploos, Bergman, A.J.I.W., Beurden, E.A.C.M., Roijers, J.F.M., Peelen, T., Berg, I.E.T., Poll-The, B.T., Kvittingen, E.A., Berger, R.

Journal:

Year:

1996

Language:

english

File:

PDF, 1.40 MB

english, 1996

138

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

Engelen, Marc, Schackmann, Martin J. A., Ofman, Rob, Sanders, Robert-Jan, Dijkstra, Inge M. E., Houten, Sander M., Fourcade, Stéphane, Pujol, Aurora, Poll-The, Bwee Tien, Wanders, Ronald J. A., Kemp,

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 724 KB

english, 2012

139

Peroxisomal functions in classical Refsum's disease: Comparison with the infantile form of Refsum's disease

R.J.A. Wanders, H.S.A. Heymans, R.B.H. Schutgens, B.T. Poll-Thé, J.M. Saudubray, J.M. Tager, G. Schrakamp, H. van den Bosch

Journal:

Journal of the Neurological Sciences

Year:

1988

Language:

english

File:

PDF, 527 KB

english, 1988

140

Sudden infant death associated with defective oxidative phosphorylation

J.A.M. Smeitink, J.C. Fischer, W. Ruitenbeek, M. Duran, M. Hofkamp, H.A.J.M. Bentlage, B.T. Poll-The

Journal:

Year:

1993

Language:

english

File:

PDF, 152 KB

english, 1993

141

de Toni-Fanconi-Debré syndrome with leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

H. Ogier, A. Lombes, H.R. Scholte, B.T. Poll-The, M. Fardeau, J. Alcardi, B. Vignes, P. Niaudet, J.M. Saudubray

Journal:

The Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 2.17 MB

english, 1988

142

Phenylketonuria in The Netherlands: 93&percnt; of the Mutations Are Detected by Single-Strand Conformation Analysis

van der Sijs-Bos, C.J.M., Diepstraten, C.M., Juyn, J.A., Plaisier, M., Giltay, J.C., van Spronsen, F.J., Smit, G.P.A., Berger, R., Smeitink, J.A.M., Poll-The, B.T., vanAmstel, Ploos

Journal:

Year:

1996

File:

PDF, 1.03 MB

1996

143

S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

Hagebeuk, Eveline E. O., Duran, Marinus, Abeling, Nico G. G. M., Vyth, Arno, Poll-The, Bwee Tien

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 127 KB

english, 2013

144

Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia

Caan, Matthan W.A., Barth, Peter G., Niermeijer, Jikke-Mien, Majoie, Charles B., Poll-The, Bwee Tien

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 1.17 MB

english, 2014

145

MOTHERS OBSERVED

deGroot, E., Ackerstaff, R.G.A., vande Valk, H.W., vander Griend, R., van Eeden, M.K.G., Kelder, J.C., Poll-The, B.T., Duran, M.

Journal:

Year:

1967

Language:

english

File:

PDF, 173 KB

english, 1967

146

High-resolution B-mode ultrasound measurement of intima-media thickness in carotid and femoral arteries shows no increased prevalence of premature atherosclerosis in heterozygotes for homocystinuria

deGroot, E., Ackerstaff, R.G.A., vande Valk, H.W., vander Griend, R., van Eeden, M.K.G., Kelder, J.C., Poll-The, B.T., Duran, M.

Journal:

Atherosclerosis

Year:

1994

Language:

english

File:

PDF, 148 KB

english, 1994

147

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

de Roo, Marieke G.A., Abeling, Nico G.G.M., Majoie, Charles B., Bosch, Annet M., Koelman, Johannes H.T.M., Cobben, Jan M., Duran, Marinus, Poll-The, Bwee Tien

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 424 KB

english, 2014

148

3-Methylglutaconic aciduria (3MGA) type IV associated with defects of the respiratory chain and severe neurologic abnormalities

Duran, Marinus, Carballo, Roberto, Ruitenbeek, W., Smeitink, J.A.M., Alvarez, Marcela García, Bakkeren, J.A.J.M., Poll-The, B.T., Chamoles, Néstor A., Fusta, Marta

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 118 KB

english, 1992

149

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

Stalpers, Xenia L., Verrips, Aad, Poll-The, Bwee Tien, Cobben, Jan-Maarten, Snoeck, Irina N., de Coo, Irenaeus F.M., Brooks, Alice, Bulk, Saskia, Gooskens, Rob, Fock, Annemarie, Verschuuren-Bemelmans,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 237 KB

english, 2013

150

PP4.6 – 1784 S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

Hagebeuk, E, Duran, M, Abeling, NG, Vyth, A, Poll-The, BT

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 89 KB

english, 2013