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Creatine Deficiency Syndromes: Diagnostic Pearls and Pitfalls

Published online by Cambridge University Press:  18 February 2016

Claire Hinnell ,
Michael Samuel ,
Fadi Alkufri ,
Keyoumars Ashkan ,
Yusof Rahman ,
Charles Turner ,
R. Neil Dalton  and
Lina Nashef
Claire Hinnell*
Affiliation:
Department of Neurology, King's College Hospital, Ashford, United Kingdom
Michael Samuel
Affiliation:
Department of Neurology, King's College Hospital, Ashford, United Kingdom East Kent Hospitals University NHS Foundation Trust, Ashford, United Kingdom
Fadi Alkufri
Affiliation:
Department of Neurology, King's College Hospital, Ashford, United Kingdom
Keyoumars Ashkan
Affiliation:
Department of Neurosurgery, King's College Hospital, Ashford, United Kingdom
Yusof Rahman
Affiliation:
Guy's and St Thomas' NHS Foundation Trust, London, Ashford, United Kingdom
Charles Turner
Affiliation:
WellChild Laboratory, King's College London, Evelina Children's Hospital, Ashford, United Kingdom Guy's and St Thomas' NHS Foundation Trust, London, Ashford, United Kingdom
R. Neil Dalton
Affiliation:
WellChild Laboratory, King's College London, Evelina Children's Hospital, Ashford, United Kingdom
Lina Nashef
Affiliation:
Department of Neurology, King's College Hospital, Ashford, United Kingdom
*
Foothills Medical Centre, 12th Floor, Neurosciences, 1403 - 29th St. NW, Calgary, Alberta, T2N 2T9, Canada
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Abstract

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Type
Brief Communications
Information
Canadian Journal of Neurological Sciences , Volume 38 , Issue 5 , September 2011 , pp. 765 - 767
Copyright
Copyright © Canadian Neurological Sciences Federation 2011

References

1.Nasrallah, F, Feki, M, Kaabachi, N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42(3):163–71.CrossRefGoogle ScholarPubMed
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3.Mercimek-Mahmutoglu, S, Stoeckler-Ipsiroglu, S, Adami, A, et al.GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology. 2006 Aug 8;67(3):480–4.CrossRefGoogle Scholar
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5.Verhoeven, NM, Guerand, WS, Struys, EA, Bouman, AA, van der Knaap, MS, Jakobs, C. Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall. J Inherit Metab Dis. 2000 Dec;23(8):835–40.CrossRefGoogle ScholarPubMed