de Rijk-van Andel, J. : rechercher sur Z-Library

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1

Clinical and Chromosome Studies of Three Patients with Smith-Magenis Syndrome

J. F. de Rijk-van Andel, C. E. Catsman-Berrevoets, J. O. Hemel, A. J. H. Hamers

Journal:

Developmental Medicine & Child Neurology

Année:

1991

Langue:

english

Fichier:

PDF, 385 KB

english, 1991

2

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

S. Grünewald, T. Imbach, K. Huijben, M. E. Rubio-Gozalbo, A. Verrips, J. B. C. De Klerk, H. Stroink, J. F. De Rijk-Van Andel, J. L. K. Van Hove, U. Wendel, G. Matthijs, T. Hennet, J. Jaeken, R. A. Wev

Journal:

Annals of Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2000

3

DNA analysis in patients with lissencephaly type I and other cortical dysplasias

B. A. Oostra, J. F. de Rijk-van Andel, H. J. Eussen, J. O. van Hemel, D. J. J. Halley, M. F. Niermeijer

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 412 KB

english, 1991

4

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

L. P. W. J. van den Heuvel, Bernadette Luiten, J. A. M. Smeitink, Johanneke F. de Rijk-van Andel, Keith Hyland, Gerry C. H. Steenbergen-Spanjers, R. J. T. Janssen, R. A. Wevers

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 73 KB

english, 1998

5

Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities

MARIE-CLAIRE Y DE WIT, JOJANNEKE DE RIJK-VAN ANDEL, DICKY J HALLEY, PINO J PODDIGHE, WILLEM FRANS M ARTS, IRENAEUS FM DE COO, GRAZIA MS MANCINI

Journal:

Developmental Medicine & Child Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 155 KB

english, 2011

6

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

J. Jaeken, J. Artigas, R. Barone, A. Fiumara, T. J. de Koning, B. T. Poll-The, J. F. de Rijk-van Andel, G. F. Hoffmann, B. Assmann, E. Mayatepek, M. Pineda, M. A. Vilaseca, J. M. Saudubray, B. Schlüte

Journal:

Journal of Inherited Metabolic Disease

Année:

1997

Langue:

english

Fichier:

PDF, 13 KB

english, 1997

7

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)

R. A. Wevers, J. F. de Rijk-van Andel, C. Bräutigam, B. Geurtz, L. P. W. J. van den Heuvel, G. C. H. Steenbergen-Spanjers, J. A. M. Smeitink, G. F. Hoffmann, F. J. M. Gabreëls

Journal:

Journal of Inherited Metabolic Disease

Année:

1999

Langue:

english

Fichier:

PDF, 96 KB

english, 1999

8

EEG in Type I Lissencephaly

J.F. De Rijk-VAN Andel, W. F. M. Arts, A. w. De Weerd

Journal:

Developmental Medicine & Child Neurology

Année:

1988

Langue:

english

Fichier:

PDF, 172 KB

english, 1988

9

Diagnostic Features And Clinical Signs Of 21 Patients With Lissencephaly Type I

J. F. de Rijk-van Andel, W. F. M. Arts, P. G. Barth, M. C. B. Loonen

Journal:

Developmental Medicine & Child Neurology

Année:

1990

Langue:

english

Fichier:

PDF, 1.97 MB

english, 1990

10

Tyrosine hydroxylase deficiency; clinical presentation, biochemistry and treatment in four dutch cases

J.F. de Rijk-Van Andel, J.F. Wevers, R.A. Bartholome, K. Blau, F.J.M. Gabreëls

Journal:

Clinical Neurology and Neurosurgery

Année:

1997

Langue:

english

Fichier:

PDF, 217 KB

english, 1997

11

P306 – 9999 A positive Gowers sign mimicking a primairy neuromuscular disorder for 17 years

de Rijk-van Andel, JF, de Coo, IFM, van der Laar, I

Journal:

European Journal of Paediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 62 KB

english, 2013

12

Lissencephaly type I

de Rijk-van Andel, J.F., Arts, W.F.M., de Weerd, A.W.

Journal:

Clinical Neurology and Neurosurgery

Année:

1988

Langue:

english

Fichier:

PDF, 127 KB

english, 1988

13

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency

de Rijk-van Andel, J. F., Gabreels, F. J.M., Geurtz, , B., Steenbergen-Spanjers, , G. C.H., van den Heuvel, L. P.W.J., Smeitink, J. A.M., Wevers, R. A.

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 176 KB

english, 2000

14

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

van Vliet, R., Breedveld, G., de Rijk-van Andel, J., Brilstra, E., Verbeek, N., Verschuuren-Bemelmans, C., Boon, M., Samijn, J., Diderich, K., van de Laar, I., Oostra, B., Bonifati, V., Maat-Kievit, A

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 599 KB

english, 2012

15

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Willemsen, M. A., Verbeek, M. M., Kamsteeg, E.-J., de Rijk-van Andel, J. F., Aeby, A., Blau, N., Burlina, A., Donati, M. A., Geurtz, B., Grattan-Smith, P. J., Haeussler, M., Hoffmann, G. F., Jung, H.,

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 251 KB

english, 2010

16

Epidemiology of Lissencephaly Type I

de Rijk-van Andel, J.F., Arts, W.F.M., Hofman, A., Staal, A., Niermeijer, M.F.

Journal:

Neuroepidemiology

Année:

1991

Fichier:

PDF, 881 KB

1991

17

EEG and Evoked Potentials in a Series of 21 Patients with Lissencephaly Type I

de Rijk-van Andel, J. F., Arts, W. F., de Weerd, A.

Journal:

Neuropediatrics

Année:

1992

Langue:

english

Fichier:

PDF, 233 KB

english, 1992

18

Biochemical hallmarks of tyrosine hydroxylase deficiency

BraÌutigam, Christa, Wevers, Ron A, Jansen, Riet J T, Smeitink, Jan A M, Andel, Johanneke F de Rijk-van, GabreeÌls, Fons J M, Hoffmann, Georg F

Journal:

Clinical Chemistry

Année:

1998

Fichier:

PDF, 429 KB

1998