van der Knaap MS - Search Results

1

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C. Mercimek-Mahmutoglu S, et al. Among authors: van der knaap ms. Neurology. 2006 Aug 8;67(3):480-4. doi: 10.1212/01.wnl.0000234852.43688.bf. Epub 2006 Jul 19. Neurology. 2006. PMID: 16855203

2

Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.

Bergman AJ, Van der Knaap MS, Smeitink JA, Duran M, Dorland L, Valk J, Poll-The BT. Bergman AJ, et al. Among authors: van der knaap ms. Pediatr Res. 1996 Sep;40(3):404-9. doi: 10.1203/00006450-199609000-00007. Pediatr Res. 1996. PMID: 8865276 Review.

3

Magnetic resonance imaging in lactic acidosis.

van der Knaap MS, Jakobs C, Valk J. van der Knaap MS, et al. J Inherit Metab Dis. 1996;19(4):535-47. doi: 10.1007/BF01799114. J Inherit Metab Dis. 1996. PMID: 8884577 Review.

4

An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency.

Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C. Struys EA, et al. Among authors: van der knaap ms. J Pharm Biomed Anal. 1998 Dec;18(4-5):659-65. doi: 10.1016/s0731-7085(98)00280-5. J Pharm Biomed Anal. 1998. PMID: 9919967

5

D-2-hydroxyglutaric aciduria: further clinical delineation.

van der Knaap MS, Jakobs C, Hoffmann GF, Duran M, Muntau AC, Schweitzer S, Kelley RI, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Eeg-Olofsson O. van der Knaap MS, et al. J Inherit Metab Dis. 1999 Jun;22(4):404-13. doi: 10.1023/a:1005548005393. J Inherit Metab Dis. 1999. PMID: 10407777

6

Leukoencephalopathy associated with a disturbance in the metabolism of polyols.

van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. van der Knaap MS, et al. Ann Neurol. 1999 Dec;46(6):925-8. doi: 10.1002/1531-8249(199912)46:6<925::aid-ana18>3.0.co;2-j. Ann Neurol. 1999. PMID: 10589548

7

Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter.

van der Knaap MS, Wevers RA, Kure S, Gabreëls FJ, Verhoeven NM, van Raaij-Selten B, Jaeken J. van der Knaap MS, et al. Among authors: van raaij selten b. J Child Neurol. 1999 Nov;14(11):728-31. doi: 10.1177/088307389901401108. J Child Neurol. 1999. PMID: 10593550

8

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJ, Onkenhout W, Peeters EA, Stöckler-Ipsiroglu S, Jakobs C. van der Knaap MS, et al. Ann Neurol. 2000 Apr;47(4):540-3. doi: 10.1002/1531-8249(200004)47:4<540::aid-ana23>3.3.co;2-b. Ann Neurol. 2000. PMID: 10762171

9

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

Muntau AC, Röschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA. Muntau AC, et al. Among authors: van der knaap ms. Neuropediatrics. 2000 Jun;31(3):137-40. doi: 10.1055/s-2000-7497. Neuropediatrics. 2000. PMID: 10963100

10

Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall.

Verhoeven NM, Guérand WS, Struys EA, Bouman AA, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: van der knaap ms. J Inherit Metab Dis. 2000 Dec;23(8):835-40. doi: 10.1023/a:1026764703486. J Inherit Metab Dis. 2000. PMID: 11196109

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

474 results

Search Page

Filters