(Q43793505)

English

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

scientific article published on 7 November 2013

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

26 November 2017

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring (English)

1 reference

Europe PubMed Central

26 November 2017

Vincenzo Leuzzi

17

1 reference

Europe PubMed Central

26 November 2017

Clara van Karnebeek

2

object named as

Clara van Karnebeek

0 references

Helena Caldeira Araújo

object named as

Helena Caldeira Araújo

11

0 references

object named as

Luisa Diogo

13

0 references

Vassili Valayannopoulos

27

object named as

Vassili Valayannopoulos

1 reference

Europe PubMed Central

26 November 2017

Sylvia Stockler-Ipsiroglu

1

object named as

Sylvia Stockler-Ipsiroglu

1 reference

Europe PubMed Central

26 November 2017

Saadet Mercimek-Mahmutoglu

5

object named as

Saadet Mercimek-Mahmutoglu

1 reference

Europe PubMed Central

26 November 2017

author name string

Clara van Karnebeek

2

1 reference

Europe PubMed Central

26 November 2017

Nicola Longo

3

1 reference

Europe PubMed Central

26 November 2017

G Christoph Korenke

4

1 reference

Europe PubMed Central

26 November 2017

Iris Marquart

6

1 reference

Europe PubMed Central

26 November 2017

Bruce Barshop

7

1 reference

Europe PubMed Central

26 November 2017

Christiane Grolik

8

1 reference

Europe PubMed Central

26 November 2017

Andrea Schlune

9

1 reference

Europe PubMed Central

26 November 2017

Brad Angle

10

1 reference

Europe PubMed Central

26 November 2017

Turgay Coskun

12

1 reference

Europe PubMed Central

26 November 2017

Michael Geraghty

14

1 reference

Europe PubMed Central

26 November 2017

Goknur Haliloglu

15

1 reference

Europe PubMed Central

26 November 2017

Vassiliki Konstantopoulou

16

1 reference

Europe PubMed Central

26 November 2017

Alina Levtova

18

1 reference

Europe PubMed Central

26 November 2017

Jennifer Mackenzie

19

1 reference

Europe PubMed Central

26 November 2017

Bruno Maranda

20

1 reference

Europe PubMed Central

26 November 2017

Aizeddin A Mhanni

21

1 reference

Europe PubMed Central

26 November 2017

Grant Mitchell

22

1 reference

Europe PubMed Central

26 November 2017

Andrew Morris

23

1 reference

Europe PubMed Central

26 November 2017

Theresa Newlove

24

1 reference

Europe PubMed Central

26 November 2017

Deborah Renaud

25

1 reference

Europe PubMed Central

26 November 2017

Fernando Scaglia

26

1 reference

Europe PubMed Central

26 November 2017

Francjan J van Spronsen

28

1 reference

Europe PubMed Central

26 November 2017

Krijn T Verbruggen

29

1 reference

Europe PubMed Central

26 November 2017

Nataliya Yuskiv

30

1 reference

Europe PubMed Central

26 November 2017

William Nyhan

31

1 reference

Europe PubMed Central

26 November 2017

Andreas Schulze

32

1 reference

Europe PubMed Central

26 November 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

7 November 2013

1 reference

Europe PubMed Central

26 November 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

26 November 2017

111

1 reference

Europe PubMed Central

26 November 2017

1

1 reference

Europe PubMed Central

26 November 2017

16-25

1 reference

Europe PubMed Central

26 November 2017

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Therapeutic trial of arginine restriction in creatine deficiency syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Lack of creatine in muscle and brain in an adult with GAMT deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Creatine deficiency in the brain: a new, treatable inborn error of metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Low creatinine: the diagnostic clue for a treatable neurologic disorder

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Characterization of seven novel mutations in seven patients with GAMT deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Global developmental delay and mental retardation or intellectual disability: conceptualization, evaluation, and etiology

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Increase of Methylguanidine and Guanidinoacetic Acid in the Brain of Amygdala-Kindled Rats

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Effect of sodium benzoate and sodium phenylacetate on brain serotonin turnover in the ornithine transcarbamylase-deficient sparse-fur mouse

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.10.018

7 January 2021

Identifiers

10.1016/J.YMGME.2013.10.018

1 reference

Europe PubMed Central

26 November 2017

1 reference

Europe PubMed Central

26 November 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q43793505&oldid=2103382979"