Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability-Reference-Cited by-同舟云学术

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability

Published:2011-09-09 Issue:10 Volume:155 Page:2446-2452
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mencarelli Maria Antonietta¹²,Tassini Maria³,Pollazzon Marzia¹,Vivi Antonio³,Calderisi Marco³,Falco Michele⁴,Fichera Marco⁴,Monti Lucia⁵,Buoni Sabrina⁶,Mari Francesca¹²,Engelke Udo⁷,Wevers Ron A.⁷,Hayek Joussef⁶,Renieri Alessandra¹²

Affiliation:

1. Medical Genetics, Department of Biotechnology, University of Siena, Siena, Italy

2. Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy

3. The NMR Center University of Siena, Siena, Italy

4. Laboratory of Genetic Diagnosis, IRCCS Associazione Oasi Maria Santissima, Troina, Italy

5. Unit of Diagnostic and Therapeutic Neuroradiology and Inter Departmental Center of Nuclear Magnetic Resonance, Azienda Ospedaliera Senese, Siena, Italy

6. Child Neuropsychiatry, Azienda Ospedaliera Senese, Siena, Italy

7. Laboratory of Genetic Endocrine and Metabolic Diseases, Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.34208

Reference14 articles.

1. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

2. Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

3. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

4. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids

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