van der Knaap MS - Search Results

1

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G. Mendes MI, et al. Among authors: van der knaap ms. Am J Hum Genet. 2018 Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22. Am J Hum Genet. 2018. PMID: 29576217 Free PMC article.

2

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: van der knaap ms. Am J Hum Genet. 2001 May;68(5):1086-92. doi: 10.1086/320108. Epub 2001 Mar 27. Am J Hum Genet. 2001. PMID: 11283793 Free PMC article.

3

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

Leegwater PA, Boor PK, Yuan BQ, van der Steen J, Visser A, Könst AA, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: van der steen j, van der knaap ms. Hum Genet. 2002 Mar;110(3):279-83. doi: 10.1007/s00439-002-0682-x. Epub 2002 Feb 8. Hum Genet. 2002. PMID: 11935341

4

eIF2B-related disorders: antenatal onset and involvement of multiple organs.

van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC. van der Knaap MS, et al. Among authors: van coster r, van berkel cg. Am J Hum Genet. 2003 Nov;73(5):1199-207. doi: 10.1086/379524. Epub 2003 Oct 17. Am J Hum Genet. 2003. PMID: 14566705 Free PMC article.

5

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.

Verhoeven NM, Roos B, Struys EA, Salomons GS, van der Knaap MS, Jakobs C. Verhoeven NM, et al. Among authors: van der knaap ms. Clin Chem. 2004 Feb;50(2):441-3. doi: 10.1373/clinchem.2003.022764. Clin Chem. 2004. PMID: 14752017 No abstract available.

6

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.

Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS. Huck JH, et al. Among authors: van der knaap ms. Am J Hum Genet. 2004 Apr;74(4):745-51. doi: 10.1086/383204. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988808 Free PMC article.

7

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.

Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA. Wolf NI, et al. Among authors: van der knaap ms. Neurology. 2004 May 11;62(9):1503-8. doi: 10.1212/01.wnl.0000123094.13406.20. Neurology. 2004. PMID: 15136672

8

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS. Mancini GM, et al. Among authors: van der knaap ms. Am J Med Genet A. 2005 Jan 30;132A(3):288-95. doi: 10.1002/ajmg.a.30473. Am J Med Genet A. 2005. PMID: 15690373

9

Unusual variants of Alexander's disease.

van der Knaap MS, Salomons GS, Li R, Franzoni E, Gutiérrez-Solana LG, Smit LM, Robinson R, Ferrie CD, Cree B, Reddy A, Thomas N, Banwell B, Barkhof F, Jakobs C, Johnson A, Messing A, Brenner M. van der Knaap MS, et al. Ann Neurol. 2005 Mar;57(3):327-38. doi: 10.1002/ana.20381. Ann Neurol. 2005. PMID: 15732098

10

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.

Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C. Verhoeven NM, et al. Among authors: van der knaap ms. J Inherit Metab Dis. 2005;28(2):169-79. doi: 10.1007/s10545-005-5261-6. J Inherit Metab Dis. 2005. PMID: 15877206

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