BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 16601897)

  • 1. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.
    Anselm IA; Alkuraya FS; Salomons GS; Jakobs C; Fulton AB; Mazumdar M; Rivkin M; Frye R; Poussaint TY; Marsden D
    J Inherit Metab Dis; 2006 Feb; 29(1):214-9. PubMed ID: 16601897
    [TBL] [Abstract][Full Text] [Related]  

  • 2. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.
    Póo-Argüelles P; Arias A; Vilaseca MA; Ribes A; Artuch R; Sans-Fito A; Moreno A; Jakobs C; Salomons G
    J Inherit Metab Dis; 2006 Feb; 29(1):220-3. PubMed ID: 16601898
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Severe epilepsy in X-linked creatine transporter defect (CRTR-D).
    Mancardi MM; Caruso U; Schiaffino MC; Baglietto MG; Rossi A; Battaglia FM; Salomons GS; Jakobs C; Zara F; Veneselli E; Gaggero R
    Epilepsia; 2007 Jun; 48(6):1211-3. PubMed ID: 17553121
    [TBL] [Abstract][Full Text] [Related]  

  • 4. X-linked creatine transporter defect: an overview.
    Salomons GS; van Dooren SJ; Verhoeven NM; Marsden D; Schwartz C; Cecil KM; DeGrauw TJ; Jakobs C
    J Inherit Metab Dis; 2003; 26(2-3):309-18. PubMed ID: 12889669
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.
    Wang Q; Yang J; Liu Y; Li X; Luo F; Xie J
    BMC Med Genet; 2018 Nov; 19(1):193. PubMed ID: 30400883
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
    Valayannopoulos V; Boddaert N; Chabli A; Barbier V; Desguerre I; Philippe A; Afenjar A; Mazzuca M; Cheillan D; Munnich A; de Keyzer Y; Jakobs C; Salomons GS; de Lonlay P
    J Inherit Metab Dis; 2012 Jan; 35(1):151-7. PubMed ID: 21660517
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Arginine supplementation in four patients with X-linked creatine transporter defect.
    Fons C; Sempere A; Arias A; López-Sala A; Póo P; Pineda M; Mas A; Vilaseca MA; Salomons GS; Ribes A; Artuch R; Campistol J
    J Inherit Metab Dis; 2008 Dec; 31(6):724-8. PubMed ID: 18925426
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability.
    Jangid N; Surana P; Salmonos G; Jain V
    BMJ Case Rep; 2020 Dec; 13(12):. PubMed ID: 33334757
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Creatine biosynthesis and transport in health and disease.
    Joncquel-Chevalier Curt M; Voicu PM; Fontaine M; Dessein AF; Porchet N; Mention-Mulliez K; Dobbelaere D; Soto-Ares G; Cheillan D; Vamecq J
    Biochimie; 2015 Dec; 119():146-65. PubMed ID: 26542286
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
    van de Kamp JM; Errami A; Howidi M; Anselm I; Winter S; Phalin-Roque J; Osaka H; van Dooren SJ; Mancini GM; Steinberg SJ; Salomons GS
    Clin Genet; 2015 Feb; 87(2):141-7. PubMed ID: 24597975
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
    Heussinger N; Saake M; Mennecke A; Dörr HG; Trollmann R
    Pediatr Neurol; 2017 Feb; 67():45-52. PubMed ID: 28065824
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    J Med Genet; 2013 Jul; 50(7):463-72. PubMed ID: 23644449
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
    van de Kamp JM; Pouwels PJ; Aarsen FK; ten Hoopen LW; Knol DL; de Klerk JB; de Coo IF; Huijmans JG; Jakobs C; van der Knaap MS; Salomons GS; Mancini GM
    J Inherit Metab Dis; 2012 Jan; 35(1):141-9. PubMed ID: 21556832
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel
    Tise CG; Palma MJ; Cusmano-Ozog KP; Matalon DR
    J Investig Med High Impact Case Rep; 2023; 11():23247096231154438. PubMed ID: 36752093
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital creatine transporter deficiency.
    deGrauw TJ; Salomons GS; Cecil KM; Chuck G; Newmeyer A; Schapiro MB; Jakobs C
    Neuropediatrics; 2002 Oct; 33(5):232-8. PubMed ID: 12536364
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.
    Yıldız Y; Göçmen R; Yaramış A; Coşkun T; Haliloğlu G
    Pediatrics; 2020 Nov; 146(5):. PubMed ID: 33093139
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.
    Thurm A; Himelstein D; DʼSouza P; Rennert O; Jiang S; Olatunji D; Longo N; Pasquali M; Swedo S; Salomons GS; Carrillo N
    J Dev Behav Pediatr; 2016 May; 37(4):322-6. PubMed ID: 27096572
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency.
    Cecil KM; DeGrauw TJ; Salomons GS; Jakobs C; Egelhoff JC; Clark JF
    J Comput Assist Tomogr; 2003; 27(1):44-7. PubMed ID: 12544242
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
    van de Kamp JM; Mancini GM; Salomons GS
    J Inherit Metab Dis; 2014 Sep; 37(5):715-33. PubMed ID: 24789340
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
    Nozaki F; Kumada T; Shibata M; Fujii T; Wada T; Osaka H
    No To Hattatsu; 2015 Jan; 47(1):49-52. PubMed ID: 25803912
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.