Literature DB >> 16169765

1H MR spectroscopy of the brain in Cr transporter defect.

P E Sijens, K T Verbruggen, M Oudkerk, F J van Spronsen, R J Soorani-Lunsing.   

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Year:  2005        PMID： 16169765     DOI： 10.1016/j.ymgme.2005.08.004

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  9 in total

1.  New insights into creatine transporter deficiency: the importance of recycling creatine in the brain.

Authors:  Jiddeke M van de Kamp; Cornelis Jakobs; K Michael Gibson; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2012-09-12       Impact factor: 4.982

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

Review 3.  Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.

Authors:  Olivier Braissant
Journal:  J Inherit Metab Dis       Date:  2012-01-18       Impact factor: 4.982

4.  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 5.  AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.

Authors:  O Braissant; H Henry
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

6.  Transport characteristics of guanidino compounds at the blood-brain barrier and blood-cerebrospinal fluid barrier: relevance to neural disorders.

Authors:  Masanori Tachikawa; Ken-Ichi Hosoya
Journal:  Fluids Barriers CNS       Date:  2011-02-28

7.  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

Review 8.  In vivo Human MR Spectroscopy Using a Clinical Scanner: Development, Applications, and Future Prospects.

Authors:  Moyoko Tomiyasu; Masafumi Harada
Journal:  Magn Reson Med Sci       Date:  2022-02-15       Impact factor: 2.760

Review 9.  The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.

Authors:  Clemens V Farr; Ali El-Kasaby; Michael Freissmuth; Sonja Sucic
Journal:  Front Synaptic Neurosci       Date:  2020-10-23
  9 in total

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