Literature DB >> 19255414

Low creatinine: the diagnostic clue for a treatable neurologic disorder.

O A Bodamer1, F Iqbal, A Mühl, C Hung, D Prayer, R Ratschmann, B C Item.   

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Year:  2009        PMID： 19255414     DOI： 10.1212/01.wnl.0000343955.66292.07

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  3 in total

Review 1.  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

2.  Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.

Authors:  Marzia Pasquali; Elisabeth Schwarz; Maren Jensen; Tatiana Yuzyuk; Irene DeBiase; Harper Randall; Nicola Longo
Journal:  J Inherit Metab Dis       Date:  2013-11-26       Impact factor: 4.982

3.  Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Authors:  J Daniel Sharer; Olaf Bodamer; Nicola Longo; Silvia Tortorelli; Mirjam M C Wamelink; Sarah Young
Journal:  Genet Med       Date:  2017-01-05       Impact factor: 8.822
  3 in total

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