Literature DB >> 16143026

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.

T Kleefstra, E H Rosenberg, G S Salomons, H Stroink, H van Bokhoven, B C J Hamel, B B A de Vries.   

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Year:  2005        PMID： 16143026     DOI： 10.1111/j.1399-0004.2005.00489.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  14 in total

1.  Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Authors:  Theodora U J Bruun; Sarah Sidky; Anabela O Bandeira; Francoise-Guillaume Debray; Can Ficicioglu; Jennifer Goldstein; Kairit Joost; Dwight D Koeberl; Diogo Luísa; Marie-Cecile Nassogne; Siobhan O'Sullivan; Katrin Õunap; Andreas Schulze; Lionel van Maldergem; Gajja S Salomons; Saadet Mercimek-Andrews
Journal:  Metab Brain Dis       Date:  2018-02-12       Impact factor: 3.584

Review 2.  X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

Authors:  Jiddeke M van de Kamp; Grazia M Mancini; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2014-05-01       Impact factor: 4.982

3.  Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.

Authors:  Efraim H Rosenberg; Cristina Martínez Muñoz; Ton J Degrauw; Cor nelis Jakobs; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

Review 4.  Autism-lessons from the X chromosome.

Authors:  Elysa J Marco; David H Skuse
Journal:  Soc Cogn Affect Neurosci       Date:  2006-12       Impact factor: 3.436

5.  Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Authors:  Ofir T Betsalel; Jiddeke M van de Kamp; Cristina Martínez-Muñoz; Efraim H Rosenberg; Arjan P M de Brouwer; Petra J W Pouwels; Marjo S van der Knaap; Grazia M S Mancini; Cornelis Jakobs; Ben C J Hamel; Gajja S Salomons
Journal:  Neurogenetics       Date:  2008-03-19       Impact factor: 2.660

6.  Arginine supplementation in four patients with X-linked creatine transporter defect.

Authors:  C Fons; A Sempere; A Arias; A López-Sala; P Póo; M Pineda; A Mas; M A Vilaseca; G S Salomons; A Ribes; R Artuch; J Campistol
Journal:  J Inherit Metab Dis       Date:  2008-10-16       Impact factor: 4.982

7.  A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

Authors:  S Dreha-Kulaczewski; V Kalscheuer; A Tzschach; H Hu; G Helms; K Brockmann; A Weddige; P Dechent; G Schlüter; R Krätzner; H-H Ropers; J Gärtner; B Zirn
Journal:  JIMD Rep       Date:  2013-11-05

Review 8.  Creatine transporter deficiency in two adult patients with static encephalopathy.

Authors:  A Sempere; C Fons; A Arias; P Rodríguez-Pombo; R Colomer; B Merinero; P Alcaide; A Capdevila; A Ribes; R Artuch; J Campistol
Journal:  J Inherit Metab Dis       Date:  2009-03-25       Impact factor: 4.982

9.  Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

Authors:  Annamaria Chilosi; Manuela Casarano; Alessandro Comparini; Francesca Maria Battaglia; Margherita Maria Mancardi; Cristina Schiaffino; Michela Tosetti; Vincenzo Leuzzi; Roberta Battini; Giovanni Cioni
Journal:  Orphanet J Rare Dis       Date:  2012-06-19       Impact factor: 4.123

10.  Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

Authors:  Jiddeke M van de Kamp; Petra J W Pouwels; Femke K Aarsen; Leontine W ten Hoopen; Dirk L Knol; Johannes B de Klerk; Ireneus F de Coo; Jan G M Huijmans; Cornelis Jakobs; Marjo S van der Knaap; Gajja S Salomons; Grazia M S Mancini
Journal:  J Inherit Metab Dis       Date:  2011-05-10       Impact factor: 4.982
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