Your browser doesn't support javascript.
loading
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Clark, Joseph F; Cecil, Kim M.
Affiliation
  • Clark JF; Department of Neurology, University of Cincinnati College of Medicine, Cincinnati, Ohio.
  • Cecil KM; 1] Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio [2] Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio [3] Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, Ohio [4] Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Pediatr Res ; 77(3): 398-405, 2015 Mar.
Article in En | MEDLINE | ID: mdl-25521922
Subject(s)
Amidinotransferases/deficiency; Amino Acid Metabolism, Inborn Errors/diagnosis; Amino Acid Metabolism, Inborn Errors/epidemiology; Brain Diseases, Metabolic, Inborn/diagnosis; Brain Diseases, Metabolic, Inborn/epidemiology; Creatine/biosynthesis; Creatine/deficiency; Guanidinoacetate N-Methyltransferase/deficiency; Intellectual Disability/diagnosis; Intellectual Disability/epidemiology; Language Development Disorders/diagnosis; Language Development Disorders/epidemiology; Mental Retardation, X-Linked/diagnosis; Mental Retardation, X-Linked/epidemiology; Movement Disorders/congenital; Plasma Membrane Neurotransmitter Transport Proteins/deficiency; Speech Disorders/diagnosis; Speech Disorders/epidemiology; Amidinotransferases/genetics; Amino Acid Metabolism, Inborn Errors/drug therapy; Amino Acid Metabolism, Inborn Errors/genetics; Amino Acid Metabolism, Inborn Errors/pathology; Brain Diseases, Metabolic, Inborn/drug therapy; Brain Diseases, Metabolic, Inborn/genetics; Brain Diseases, Metabolic, Inborn/pathology; Creatine/blood; Creatine/genetics; Creatine/physiology; Creatine/urine; Developmental Disabilities/diagnosis; Developmental Disabilities/drug therapy; Developmental Disabilities/epidemiology; Developmental Disabilities/genetics; Developmental Disabilities/pathology; Female; Guanidinoacetate N-Methyltransferase/genetics; Humans; Incidence; Infant; Intellectual Disability/drug therapy; Intellectual Disability/genetics; Intellectual Disability/pathology; Language Development Disorders/drug therapy; Language Development Disorders/etiology; Language Development Disorders/genetics; Language Development Disorders/pathology; Magnetic Resonance Spectroscopy/methods; Male; Mental Retardation, X-Linked/drug therapy; Mental Retardation, X-Linked/genetics; Mental Retardation, X-Linked/pathology; Movement Disorders/diagnosis; Movement Disorders/drug therapy; Movement Disorders/epidemiology; Movement Disorders/genetics; Movement Disorders/pathology; Plasma Membrane Neurotransmitter Transport Proteins/genetics; Sex Factors; Speech Disorders/drug therapy; Speech Disorders/genetics; Speech Disorders/pathology; Utah/epidemiology
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Speech Disorders / Creatine / Brain Diseases, Metabolic, Inborn / Mental Retardation, X-Linked / Guanidinoacetate N-Methyltransferase / Plasma Membrane Neurotransmitter Transport Proteins / Amidinotransferases / Amino Acid Metabolism, Inborn Errors / Language Development Disorders / Intellectual Disability Type of study: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Prognostic_studies Country/Region as subject: America do norte Language: En Journal: Pediatr Res Year: 2015 Document type: Article Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Speech Disorders / Creatine / Brain Diseases, Metabolic, Inborn / Mental Retardation, X-Linked / Guanidinoacetate N-Methyltransferase / Plasma Membrane Neurotransmitter Transport Proteins / Amidinotransferases / Amino Acid Metabolism, Inborn Errors / Language Development Disorders / Intellectual Disability Type of study: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Prognostic_studies Country/Region as subject: America do norte Language: En Journal: Pediatr Res Year: 2015 Document type: Article Country of publication: Estados Unidos