Jakobs C - Search Results

1

Clinical features and X-inactivation in females heterozygous for creatine transporter defect.

van de Kamp JM, Mancini GM, Pouwels PJ, Betsalel OT, van Dooren SJ, de Koning I, Steenweg ME, Jakobs C, van der Knaap MS, Salomons GS. van de Kamp JM, et al. Among authors: jakobs c. Clin Genet. 2011 Mar;79(3):264-72. doi: 10.1111/j.1399-0004.2010.01460.x. Clin Genet. 2011. PMID: 20528887

2

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. Salomons GS, et al. Among authors: jakobs c. Am J Hum Genet. 2001 Jun;68(6):1497-500. doi: 10.1086/320595. Epub 2001 Apr 20. Am J Hum Genet. 2001. PMID: 11326334 Free PMC article.

3

X-linked creatine transporter defect: an overview.

Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. Salomons GS, et al. Among authors: jakobs c. J Inherit Metab Dis. 2003;26(2-3):309-18. doi: 10.1023/a:1024405821638. J Inherit Metab Dis. 2003. PMID: 12889669 Review.

4

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: jakobs c. 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

5

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. van de Kamp JM, et al. Among authors: jakobs c. J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. J Med Genet. 2013. PMID: 23644449

6

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. Among authors: jakobs c. 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

7

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: jakobs c. 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.

8

Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.

Almeida LS, Rosenberg EH, Martinez-Muñoz C, Verhoeven NM, Vilarinho L, Jakobs C, Salomons GS. Almeida LS, et al. Among authors: jakobs c. Mol Genet Metab. 2006 Dec;89(4):392-4. doi: 10.1016/j.ymgme.2006.06.006. Epub 2006 Aug 8. Mol Genet Metab. 2006. PMID: 16899382

9

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.

Almeida LS, Vilarinho L, Darmin PS, Rosenberg EH, Martinez-Muñoz C, Jakobs C, Salomons GS. Almeida LS, et al. Among authors: jakobs c. Mol Genet Metab. 2007 May;91(1):1-6. doi: 10.1016/j.ymgme.2007.01.005. Epub 2007 Mar 1. Mol Genet Metab. 2007. PMID: 17336114

10

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.

Mercimek-Mahmutoglu S, Sinclair G, van Dooren SJ, Kanhai W, Ashcraft P, Michel OJ, Nelson J, Betsalel OT, Sweetman L, Jakobs C, Salomons GS. Mercimek-Mahmutoglu S, et al. Among authors: jakobs c. Mol Genet Metab. 2012 Nov;107(3):433-7. doi: 10.1016/j.ymgme.2012.07.022. Epub 2012 Aug 3. Mol Genet Metab. 2012. PMID: 23031365

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