Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation (Q48329441)

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scientific article published on 21 December 2006

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Language	Label	Description	Also known as
English	Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation	scientific article published on 21 December 2006

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instance of

scholarly article

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Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

title

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation (English)

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Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

author name string

Krijn T Verbruggen

series ordinal

1

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Europe PubMed Central

PubMed publication ID

17186272

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10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

Wilma A Knijff

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2

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Europe PubMed Central

PubMed publication ID

17186272

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10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

Roelineke J Soorani-Lunsing

series ordinal

3

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Europe PubMed Central

PubMed publication ID

17186272

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10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

Paul E Sijens

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4

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Europe PubMed Central

PubMed publication ID

17186272

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10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

Nanda M Verhoeven

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5

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Europe PubMed Central

PubMed publication ID

17186272

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10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

Gajja S Salomons

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6

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Europe PubMed Central

PubMed publication ID

17186272

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10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

Siena M Goorhuis-Brouwer

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7

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Europe PubMed Central

PubMed publication ID

17186272

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10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

Francjan J van Spronsen

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

publication date

21 December 2006

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Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

published in

European Journal of Pediatrics

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stated in

Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

volume

166

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stated in

Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

issue

9

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stated in

Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

page(s)

921-925

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Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

cites work

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00431-006-0340-8

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00431-006-0340-8

retrieved

21 January 2018

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Creatine and creatinine metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guanidinoacetate methyltransferase deficiency: new clinical features

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of seven novel mutations in seven patients with GAMT deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Time Frame of Critical/Sensitive Periods of Language Development

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked creatine transporter defect: an overview

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17186272

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00431-006-0340-8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

PubMed publication ID

17186272

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17186272

retrieved

10 February 2018

reference URL

http://europepmc.org/abstract/MED/17186272

 

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