Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in theGAMTGene-Reference-Cited by-同舟云学术

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in theGAMTGene

Published:2014-03-06 Issue:4 Volume:35 Page:462-469
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Mercimek-Mahmutoglu Saadet¹²,Ndika Joseph²,Kanhai Warsha²,de Villemeur Thierry Billette³,Cheillan David⁴,Christensen Ernst⁵,Dorison Nathalie³,Hannig Vickie⁶,Hendriks Yvonne⁷,Hofstede Floris C.⁸,Lion-Francois Laurence⁹,Lund Allan M.¹⁰,Mundy Helen¹¹,Pitelet Gaele¹²,Raspall-Chaure Miquel¹³,Scott-Schwoerer Jessica A.¹⁴,Szakszon Katalin¹⁵,Valayannopoulos Vassili¹⁶,Williams Monique¹⁷,Salomons Gajja S.²

Affiliation:

1. Division of Clinical and Metabolic Genetics; Department of Pediatrics, The Hospital for Sick Children; University of Toronto; Toronto Canada

2. Metabolic Laboratory, Department of Clinical Chemistry; VU University Medical Center; Amsterdam The Netherlands

3. AP-HP Service de Neuropédiatrie, Pathologie du Développement; Hôpital Trousseau; Paris France

4. Service Maladies Héréditaires du Métabolisme, Groupement Hospitalier Est; Hospices Civils de Lyon; France

5. Department of Clinical Genetics; Juliane Marie Center; Copenhagen Denmark

6. Division of Medical Genetics and Genomic Medicine; Vanderbilt University Medical Center; Nashville Tennessee

7. Department of Clinical Genetics; Free University Medical Center; Amsterdam The Netherlands

8. Wilhelmina Children's Hospital; Utrecht The Netherlands

9. Service de Neuropédiatrie, Groupement Hospitalier Est; Hospices Civils de Lyon; Bron France

10. Department of Clinical Genetics; Centre for Inherited Metabolic Diseases; Copenhagen Denmark

11. Evelina Centre for Inherited Metabolic Disease, Goys and St Thomas NHS Foundation Trust; Evelina Children's Hospital; London England

12. Department of Pediatrics; Chulenval; Nice France

13. Department of Paediatric Neurology; Hospital Universitari Vall d’Hebron; Barcelona Spain

14. Department of Pediatrics, Division of Genetics and Metobolism; University of Wisconsin; Madison Wisconsin

15. Institute Pediatrics, Clinical Genetics Center; University of Debrecen; Hungary

16. Reference Center for Inherited Metabolic Disease; Paris France

17. Department of Pediatrics; Sophia Childrens Hospital; Erasmus Medical Center; The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. A Japanese adult case of guanidinoacetate methyltransferase deficiency;Akiyama;JIMD Rep,2014

2. Exocytotic release of creatine in rat brain;Almeida;Synapse,2006a

3. Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts;Almeida;Mol Genet Metab,2006b

4. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation;Caldeira Araújo;Am J Med Genet A,2005

5. Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms;Cheillan;Orphanet J Rare Dis,2012

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