title: Creatine deficiency syndromes: diagnostic pearls and pitfalls.
authors.affiliation: Department of Neurology, King's College Hospital, United Kingdom.
authors.forename: Claire
authors.initials: C
authors.lastname: Hinnell
authors.forename: Michael
authors.initials: M
authors.lastname: Samuel
authors.forename: Fadi
authors.initials: F
authors.lastname: Alkufri
authors.forename: Keyoumars
authors.initials: K
authors.lastname: Ashkan
authors.forename: Yusof
authors.initials: Y
authors.lastname: Rahman
authors.forename: Charles
authors.initials: C
authors.lastname: Turner
authors.forename: R Neil
authors.initials: RN
authors.lastname: Dalton
authors.forename: Lina
authors.initials: L
authors.lastname: Nashef
mesh_terms: D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000097:blood / Q000175:diagnosis*; D002853:Chromatography, Liquid / Q000379:methods; D003401:Creatine / Q000097:blood* / Q000172:deficiency; D005260:Female; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000097:blood / Q000175:diagnosis*; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000097:blood / Q000172:deficiency; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods
chemical_list: D050480:Plasma Membrane Neurotransmitter Transport Proteins; C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase; D003401:Creatine