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1

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

Dr. Tom J. de Koning, Marinus Duran, Lambertus Dorland, Rob Gooskens, Emile van Schaftingen, Jaak Jaeken, Nenad Blau, Ruud Berger, Bwee Tien Poll-The

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 435 KB

english, 1998

2

3-, 6- and 7-Hydroxyoctanoic Acids are Metabolites of Medium-Chain Triglycerides and Excreted in Urine as Glucuronides

Costa, Catarina C. G., Dorland, Lambertus, Kroon, Marijke, Almeida, Isabel Tavares de, Jakobs, Cornelis, Duran, Marinus

Journal:

Journal of Mass Spectrometry

Year:

1996

Language:

english

File:

PDF, 617 KB

english, 1996

3

Peroxisomal disorders

Bwee Tien Poll-The, Tom J. de Koning, Lambertus Dorland, Marinus Duran

Journal:

Neuroscience Research Communications

Year:

1998

Language:

english

File:

PDF, 1.31 MB

english, 1998

4

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome

Fernanda A.A. Langius, Hans R. Waterham, Gerrit Jan Romeijn, Wendy Oostheim, Martina M.J. de Barse, Lambertus Dorland, Marinus Duran, Frits A. Beemer, Ronald J.A. Wanders, Bwee Tien Poll-The

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 153 KB

english, 2003

5

Mannosyl-β(1-4)-N-acetylglucosaminyl-β(1-N)-urea, a compound isolated from the urine of patients with β-mannosidosis

Lambertus Dorland, A Michiel Van Rhee, Johannes Van Pelt, Marinus Duran, Jan Dallinga, Wigger Heerma, Pieter De Waard

Journal:

Glycoconjugate Journal

Year:

1988

Language:

english

File:

PDF, 278 KB

english, 1988

6

10.1038/74155

van den Boogaard, Marie-José H., Dorland, Marinus, Beemer, Frits A., van Amstel, Hans Kristian Ploos

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 232 KB

english, 2000

7

10.1038/9691

Waterham, Hans R., Poll-The, Bwee Tien, Houten, Sander M., Kuis, Wietse, Duran, Marinus, de Koning, Tom J., van Royen-Kerkhof, Annet, Romeijn, Gerrit J., Frenkel, Joost, Dorland, Lambertus, de Barse,

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 104 KB

english, 1999

8

Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency

Duran, Marinus, Dorland, Lambertus, Jakobs, Cornelis, Wevers, Ron A, Berger, Ruud, Poll-The, Bwee-Tien, de Koning, Tom J

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 70 KB

english, 2000

9

Accumulation of mannosyl-β(1 → 4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of β-mannosidase

Johannes Van Pelt, Cornelis H. Hokke, Lambertus Dorland, Marinus Duran, Johannis P. Kamerling, Johannes F.G. Vliegenthart

Journal:

Clinica Chimica Acta

Year:

1990

Language:

english

File:

PDF, 375 KB

english, 1990

10

Transfer of sialic acid in α2-6 linkage to mannose in Manβ1-4GlcNAc and Manβ1-4GlcNAcβ1-4GlcNAc by the action of Galβ1-4GlcNAc α2-6-sialyltransferase

Johannes van Pelt, Lambertus Dorland, Marinus Duran, Cornelis H. Hokke

Journal:

Year:

1989

Language:

english

File:

PDF, 483 KB

english, 1989

11

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle

Wulf Röschinger, Ania C Muntau, Marinus Duran, Lambertus Dorland, Lodewijk IJlst, Ronald J.A Wanders, Adelbert A Roscher

Journal:

Clinica Chimica Acta

Year:

2000

Language:

english

File:

PDF, 83 KB

english, 2000

12

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

13

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

Veiga-da-Cunha, Maria, Verhoeven-Duif, Nanda M., Koning, Tom J., Duran, Marinus, Dorland, Bert, Schaftingen, Emile

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 404 KB

english, 2013

14

Antral follicle counts by transvaginal ultrasonography are related to age in women with proven natural fertility

Scheffer, Gabriëlle J, Broekmans, Frank J.M, Dorland, Marinus, Habbema, Johannes D.F, Looman, Caspar W.N, te Velde, Egbert R

Journal:

Fertility and Sterility

Year:

1999

Language:

english

File:

PDF, 127 KB

english, 1999

15

Survival of Human Ovarian Follicles from Fetal to Adult Life: Apoptosis, Apoptosis-Related Proteins, and Transcription Factor GATA-4 1

Vaskivuo, Tommi E., Anttonen, Mikko, Herva, Riitta, Billig, Håkan, Dorland, Marinus, te Velde, Egbert R., Stenbäck, Frej, Heikinheimo, Markku, Tapanainen, Juha S.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2001

Language:

english

File:

PDF, 1.69 MB

english, 2001

16

Identification of Methyl-branched Chain Dicarboxylic Acids in Amniotic Fluid and Urine in Propionic and Methylmalonic Acidemia

Jakobs, Cornelis, Dorland, Lambertus, Sweetman, Lawrence, Duran, Marinus, Nyhan, William L, Wadman, Sybe K

Journal:

Pediatric Research

Year:

1984

Language:

english

File:

PDF, 622 KB

english, 1984

17

Age-dependent decrease in embryo implantation rate after in vitro fertilization

van Kooij, Roelof J., Looman, Caspar W.N., Habbema, Johannes D.F., Dorland, Marinus, te Velde, Egbert R.

Journal:

Fertility and Sterility

Year:

1996

Language:

english

File:

PDF, 996 KB

english, 1996

18

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

Year:

1998

File:

PDF, 396 KB

1998

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